Variant report

Variant	rs2736430
Chromosome Location	chr6:31801233-31801234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF3C2	chr6:31799908-31801566	K562	blood:	n/a	n/a
2	POLR2A	chr6:31800602-31801359	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:31800490-31801240	K562	blood:	n/a	n/a
4	POLR2A	chr6:31800677-31801276	K562	blood:	n/a	n/a
5	NR2F2	chr6:31801225-31805639	K562	blood:	n/a	n/a
6	CBX3	chr6:31800393-31801772	K562	blood:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31760851..31764032-chr6:31800769..31804370,7	MCF-7	breast:
2	chr6:31800755..31815108-chr6:31823340..31833266,54	K562	blood:
3	chr6:31800806..31810142-chr6:31827604..31833040,24	MCF-7	breast:
4	chr6:31737226..31750413-chr6:31786206..31805473,50	MCF-7	breast:
5	chr6:31630896..31633436-chr6:31799776..31802391,2	MCF-7	breast:
6	chr6:31798354..31804916-chr6:31860790..31871982,18	MCF-7	breast:
7	chr6:31799107..31802085-chr6:31837793..31840272,2	MCF-7	breast:
8	chr6:31799156..31801259-chr6:31917020..31920004,2	K562	blood:
9	chr6:31696408..31700150-chr6:31800226..31805691,5	MCF-7	breast:
10	chr6:31800973..31803192-chr6:31924804..31927036,2	MCF-7	breast:
11	chr6:31735011..31745595-chr6:31798203..31806127,22	MCF-7	breast:
12	chr6:31647774..31650438-chr6:31800193..31802973,5	MCF-7	breast:
13	chr6:31799457..31804164-chr6:31924693..31928301,4	K562	blood:
14	chr6:27113220..27115290-chr6:31800925..31803637,2	K562	blood:
15	chr6:31801090..31813654-chr6:31824519..31834411,41	MCF-7	breast:
16	chr6:31800867..31807275-chr6:31862460..31868132,16	K562	blood:
17	chr6:31801119..31803237-chr6:31933557..31935113,2	K562	blood:
18	chr6:31800669..31805219-chr6:31862460..31868046,11	K562	blood:
19	chr6:31669236..31670926-chr6:31800796..31802801,2	MCF-7	breast:
20	chr6:31745758..31747408-chr6:31800818..31802986,2	MCF-7	breast:
21	chr6:31801233..31804005-chrX:109560726..109563107,2	K562	blood:
22	chr6:31801119..31803237-chr6:31932731..31935113,3	K562	blood:
23	chr6:31747450..31751295-chr6:31800640..31804723,4	MCF-7	breast:
24	chr6:31800194..31804653-chr6:31841439..31846611,7	MCF-7	breast:
25	chr6:31758502..31767561-chr6:31786193..31804196,52	MCF-7	breast:
26	chr6:31800580..31812447-chr6:31823435..31837480,47	K562	blood:
27	chr6:31619085..31621370-chr6:31801083..31803892,2	MCF-7	breast:
28	chr6:31706634..31708801-chr6:31800658..31802483,2	MCF-7	breast:

No data

Variant related genes	Relation type
C6orf48	TF binding region
SNORD52	TF binding region
SNORD48	TF binding region
ENSG00000204435	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000243649	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000221267	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000201207	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204371	Chromatin interaction
ENSG00000204356	Chromatin interaction
ENSG00000101935	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000201555	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000166278	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2075800	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445689	0.85[EUR][1000 genomes]
rs2507954	0.83[EUR][1000 genomes]
rs2607015	0.84[ASN][1000 genomes]
rs2736428	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2753960	0.84[ASN][1000 genomes]
rs2844459	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs707939	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2736430	AIF1	Cis_1M	lymphoblastoid	RTeQTL
rs2736430	CSNK2B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31798600-31801800	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:31798600-31801800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:31798800-31802000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:31799000-31801400	Enhancers	Stomach Mucosa	stomach
5	chr6:31799000-31801800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:31799000-31801800	Enhancers	Primary B cells from cord blood	blood
7	chr6:31799000-31801800	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:31799000-31802000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:31799000-31802000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:31799000-31802000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:31799000-31802000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:31799000-31802000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:31799000-31802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:31799000-31802000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:31799000-31802000	Weak transcription	Fetal Kidney	kidney
16	chr6:31799000-31802200	Weak transcription	Lung	lung
17	chr6:31799000-31802400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:31799000-31802600	Weak transcription	Gastric	stomach
19	chr6:31799200-31801600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:31799200-31801800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:31799200-31802000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:31799200-31802000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:31799200-31802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:31799200-31802000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:31799200-31802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:31799200-31802000	Weak transcription	Fetal Heart	heart
27	chr6:31799200-31802000	Weak transcription	A549	lung
28	chr6:31799200-31802000	Weak transcription	HSMM	muscle
29	chr6:31799200-31802000	Weak transcription	HSMMtube	muscle
30	chr6:31799200-31802000	Weak transcription	NHLF	lung
31	chr6:31799200-31802000	Weak transcription	Osteobl	bone
32	chr6:31799400-31801800	Genic enhancers	Fetal Intestine Small	intestine
33	chr6:31799400-31801800	Weak transcription	Fetal Lung	lung
34	chr6:31799400-31802000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:31799400-31802000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:31799400-31802000	Weak transcription	HUVEC	blood vessel
37	chr6:31799400-31802000	Weak transcription	NH-A	brain
38	chr6:31799600-31801400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:31799600-31801400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:31799600-31801400	Weak transcription	Fetal Thymus	thymus
41	chr6:31799600-31801600	Weak transcription	Primary T cells from cord blood	blood
42	chr6:31799600-31801600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:31799600-31801800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:31799600-31801800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:31799600-31801800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:31799600-31801800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:31799600-31801800	Weak transcription	Psoas Muscle	Psoas
48	chr6:31799600-31801800	Weak transcription	Small Intestine	intestine
49	chr6:31799600-31802000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:31799600-31802000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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