Variant report

Variant	rs3115674
Chromosome Location	chr6:31799076-31799077
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr6:31797677-31799776	K562	blood:	n/a	chr6:31798379-31798397
2	BACH1	chr6:31797607-31799758	K562	blood:	n/a	n/a
3	CHD2	chr6:31797617-31800276	K562	blood:	n/a	chr6:31798298-31798308
4	POLR2A	chr6:31798035-31800306	K562	blood:	n/a	n/a
5	CEBPB	chr6:31798278-31799270	K562	blood:	n/a	chr6:31798456-31798467
6	POLR2A	chr6:31798456-31799173	K562	blood:	n/a	n/a
7	ZNF384	chr6:31797556-31799109	K562	blood:	n/a	n/a
8	KAP1	chr6:31798761-31799798	K562	blood:	n/a	n/a
9	POLR2A	chr6:31798622-31799832	K562	blood:	n/a	n/a
10	POLR2A	chr6:31797433-31800272	K562	blood:	n/a	n/a
11	RCOR1	chr6:31798742-31799100	K562	blood:	n/a	n/a
12	ARID3A	chr6:31798889-31799331	K562	blood:	n/a	n/a
13	MTA3	chr6:31798582-31799120	GM12878	blood:	n/a	n/a
14	ZNF263	chr6:31798634-31799708	HEK293-T-REx	kidney:	n/a	n/a
15	TEAD4	chr6:31797318-31800333	K562	blood:	n/a	n/a
16	MXI1	chr6:31798718-31799799	K562	blood:	n/a	n/a
17	POLR2A	chr6:31798114-31799947	K562	blood:	n/a	n/a
18	POLR2A	chr6:31798916-31799703	HEK293	kidney:	n/a	n/a
19	POLR2A	chr6:31798806-31799149	HepG2	liver:	n/a	n/a
20	TRIM28	chr6:31797979-31799129	K562	blood:	n/a	n/a
21	NR2F2	chr6:31794048-31799998	K562	blood:	n/a	n/a
22	PML	chr6:31797318-31800395	K562	blood:	n/a	n/a
23	POLR2A	chr6:31798749-31800092	MCF10A-Er-Src	breast:	n/a	n/a
24	TBL1XR1	chr6:31798602-31799093	K562	blood:	n/a	n/a
25	ZNF274	chr6:31798767-31799878	K562	blood:	n/a	n/a
26	SIRT6	chr6:31797554-31799416	K562	blood:	n/a	n/a
27	MAX	chr6:31798910-31799149	K562	blood:	n/a	n/a
28	POLR2A	chr6:31798733-31799111	HepG2	liver:	n/a	n/a
29	HDAC2	chr6:31798919-31799102	K562	blood:	n/a	n/a
30	RFX5	chr6:31799064-31799169	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31798147..31799673-chr6:31935211..31937564,2	K562	blood:
2	chr6:31796727..31799560-chr6:31913553..31916544,2	MCF-7	breast:
3	chr6:31797497..31799469-chr6:31830033..31833133,3	MCF-7	breast:
4	chr6:31737226..31750413-chr6:31786206..31805473,50	MCF-7	breast:
5	chr6:31797911..31799490-chr6:31827332..31829785,2	MCF-7	breast:
6	chr6:31793612..31800139-chr6:31830250..31833240,9	K562	blood:
7	chr6:31797792..31800637-chr6:32096282..32098134,2	K562	blood:
8	chr6:31798354..31804916-chr6:31860790..31871982,18	MCF-7	breast:
9	chr5:172197447..172198223-chr6:31798945..31799722,2	Hela-S3	cervix:
10	chr6:31735011..31745595-chr6:31798203..31806127,22	MCF-7	breast:
11	chr6:31797405..31799206-chr6:31828382..31830105,2	K562	blood:
12	chr6:31586894..31588593-chr6:31796465..31799455,2	MCF-7	breast:
13	chr6:31696240..31698841-chr6:31797761..31799583,2	MCF-7	breast:
14	chr6:31798181..31800241-chr6:31829539..31832476,3	K562	blood:
15	chr6:31756951..31764627-chr6:31780500..31799197,32	MCF-7	breast:
16	chr6:31758502..31767561-chr6:31786193..31804196,52	MCF-7	breast:
17	chr6:31798147..31800786-chr6:31936064..31938311,2	K562	blood:

No data

Variant related genes	Relation type
C6orf48	TF binding region
SNORD48	TF binding region
ENSG00000166278	Chromatin interaction
ENSG00000120129	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000243649	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000201555	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204315	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000204371	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2607014	0.84[EUR][1000 genomes]
rs2736425	0.86[EUR][1000 genomes]
rs3132443	0.83[EUR][1000 genomes]
rs501942	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
10	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
11	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv462872	chr6:31778272-31864304	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
19	nsv601945	chr6:31778272-31864304	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
20	nsv884451	chr6:31783527-31800631	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
21	nsv884456	chr6:31785228-31800631	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
22	nsv884457	chr6:31785228-31803130	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
23	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
24	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
25	nsv884461	chr6:31785453-31827045	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
26	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
27	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
28	nsv462874	chr6:31794592-31864304	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
29	nsv601959	chr6:31794592-31864304	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
30	esv3329350	chr6:31794973-31799171	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
31	nsv884463	chr6:31797422-31827045	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3115674	C6orf1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31797200-31799200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:31797200-31799200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:31797200-31799200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:31797200-31799200	Active TSS	HSMM	muscle
5	chr6:31797200-31799400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:31797200-31799400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr6:31797200-31799400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:31797200-31799400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:31797200-31799400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:31797200-31799400	Active TSS	Esophagus	oesophagus
11	chr6:31797200-31799400	Active TSS	Fetal Brain Female	brain
12	chr6:31797200-31799600	Active TSS	Brain Cingulate Gyrus	brain
13	chr6:31797200-31800000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:31797600-31800000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr6:31798000-31799200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:31798000-31799200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:31798000-31799600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr6:31798000-31799600	Flanking Active TSS	Dnd41	blood
19	chr6:31798200-31799600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:31798200-31800200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr6:31798400-31799200	Active TSS	Brain Germinal Matrix	brain
22	chr6:31798400-31799200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr6:31798400-31799200	Flanking Active TSS	HUVEC	blood vessel
24	chr6:31798400-31799600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:31798600-31799200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:31798600-31799200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr6:31798600-31799200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:31798600-31799200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:31798600-31799200	Flanking Active TSS	Liver	Liver
30	chr6:31798600-31799200	Flanking Active TSS	Right Atrium	heart
31	chr6:31798600-31799200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr6:31798600-31799400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr6:31798600-31799400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr6:31798600-31799400	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr6:31798600-31799400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr6:31798600-31799600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:31798600-31799600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:31798600-31799600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:31798600-31799800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:31798600-31799800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:31798600-31799800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr6:31798600-31799800	Transcr. at gene 5' and 3'	K562	blood
43	chr6:31798600-31800000	Flanking Active TSS	Hela-S3	cervix
44	chr6:31798600-31801800	Enhancers	Primary B cells from peripheral blood	blood
45	chr6:31798600-31801800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:31798800-31799200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:31798800-31799200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:31798800-31799200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:31798800-31799200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:31798800-31799200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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