Variant report

Variant	rs12213612
Chromosome Location	chr6:31781957-31781958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31781895-31782245	Hela-S3	cervix:	n/a	n/a
2	HCFC1	chr6:31781524-31783637	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:31781793-31782292	Hela-S3	cervix:	n/a	n/a
4	YY1	chr6:31781940-31782213	K562	blood:	n/a	n/a
5	POLR2A	chr6:31781954-31782234	ProgFib	skin:	n/a	n/a
6	UBTF	chr6:31781626-31782785	K562	blood:	n/a	n/a
7	EP300	chr6:31781201-31783632	SK-N-SH	brain:	n/a	chr6:31782928-31782944 chr6:31782372-31782385 chr6:31782453-31782466
8	CBX3	chr6:31781275-31785537	K562	blood:	n/a	n/a
9	POLR2A	chr6:31781587-31785535	Hela-S3	cervix:	n/a	n/a
10	UBTF	chr6:31781679-31783686	K562	blood:	n/a	n/a
11	TAF1	chr6:31781760-31782250	K562	blood:	n/a	n/a
12	POLR2A	chr6:31781939-31787367	K562	blood:	n/a	n/a
13	MAX	chr6:31781632-31783598	K562	blood:	n/a	chr6:31783047-31783056 chr6:31782900-31782910 chr6:31783079-31783089
14	NR2F2	chr6:31781154-31786921	K562	blood:	n/a	n/a
15	ZNF384	chr6:31781900-31782159	K562	blood:	n/a	n/a
16	TEAD4	chr6:31781225-31783609	K562	blood:	n/a	n/a
17	HEY1	chr6:31781950-31782259	K562	blood:	n/a	n/a
18	CUX1	chr6:31781378-31782050	K562	blood:	n/a	chr6:31781884-31781893 chr6:31781876-31781887
19	TCF7L2	chr6:31781852-31781991	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr6:31781409-31782241	K562	blood:	n/a	n/a
21	ARID3A	chr6:31781275-31781998	K562	blood:	n/a	n/a
22	POLR2A	chr6:31781957-31782250	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:31781796..31783894-chr6:31925428..31927086,2	K562	blood:
2	chr6:31781417..31783934-chr6:32937499..32939420,2	K562	blood:
3	chr6:31780821..31784746-chr6:31829825..31831701,4	MCF-7	breast:
4	chr6:31507867..31510784-chr6:31781026..31784406,3	MCF-7	breast:
5	chr6:31781780..31785433-chr6:31828310..31832689,5	K562	blood:
6	chr6:31780396..31783150-chr6:32157710..32160077,2	K562	blood:
7	chr6:31781780..31785433-chr6:31829263..31832689,6	K562	blood:
8	chr6:31743107..31747994-chr6:31781956..31785553,7	MCF-7	breast:
9	chr6:31780956..31783456-chr6:31865283..31866829,2	K562	blood:
10	chr6:31780296..31786175-chr6:31828333..31833086,7	MCF-7	breast:
11	chr6:31759482..31765185-chr6:31781824..31784897,13	MCF-7	breast:
12	chr6:31756951..31764627-chr6:31780500..31799197,32	MCF-7	breast:
13	chr6:27100367..27101045-chr6:31781454..31781990,2	Hela-S3	cervix:
14	chr6:31508732..31511014-chr6:31781931..31784408,2	K562	blood:
15	chr6:31781258..31784668-chr6:32935964..32938963,3	MCF-7	breast:
16	chr6:31781426..31784987-chr6:31937458..31940746,3	K562	blood:
17	chr6:31780574..31784383-chr6:31865157..31867218,4	K562	blood:

No data

Variant related genes	Relation type
HSPA1A	TF binding region
ENSG00000204304	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000204356	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000201555	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204371	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10456397	1.00[ASN][1000 genomes]
rs11961665	1.00[ASN][1000 genomes]
rs11966200	1.00[ASN][1000 genomes]
rs12193582	1.00[ASN][1000 genomes]
rs12194905	0.87[ASN][1000 genomes]
rs12206352	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207158	0.87[ASN][1000 genomes]
rs12212242	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12213415	0.87[ASN][1000 genomes]
rs13196409	0.81[ASN][1000 genomes]
rs35009002	1.00[ASN][1000 genomes]
rs4448084	1.00[ASN][1000 genomes]
rs71543427	0.80[ASN][1000 genomes]
rs7765136	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv981359	chr6:31779004-31797103	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
21	nsv869989	chr6:31779203-31797657	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31774800-31782600	Weak transcription	Lung	lung
2	chr6:31774800-31783000	Weak transcription	Gastric	stomach
3	chr6:31780200-31782000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:31780200-31782200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:31780600-31782200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr6:31780800-31782000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:31780800-31782000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:31780800-31782000	Weak transcription	Esophagus	oesophagus
9	chr6:31780800-31782200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr6:31780800-31782400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:31781000-31782000	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:31781000-31782400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:31781000-31782400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:31781000-31782400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:31781200-31782000	Enhancers	Spleen	Spleen
16	chr6:31781200-31782000	Flanking Active TSS	Hela-S3	cervix
17	chr6:31781200-31782200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:31781400-31782000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:31781400-31782000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:31781400-31782000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:31781400-31782000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr6:31781400-31782000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:31781400-31782000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:31781400-31782000	Flanking Active TSS	Fetal Brain Male	brain
25	chr6:31781400-31782000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr6:31781400-31782000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr6:31781400-31782000	Flanking Active TSS	A549	lung
28	chr6:31781400-31782000	Flanking Active TSS	GM12878-XiMat	blood
29	chr6:31781400-31782000	Flanking Active TSS	HepG2	liver
30	chr6:31781400-31782000	Flanking Active TSS	HSMMtube	muscle
31	chr6:31781400-31782000	Enhancers	NHDF-Ad	bronchial
32	chr6:31781400-31782200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:31781400-31783400	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr6:31781600-31782000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:31781600-31782000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:31781600-31782000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:31781600-31782000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:31781600-31782000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:31781600-31782000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:31781600-31782000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr6:31781600-31782000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:31781600-31782000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:31781600-31782000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:31781600-31782000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:31781600-31782000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:31781600-31782000	Flanking Active TSS	Liver	Liver
47	chr6:31781600-31782000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr6:31781600-31782000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr6:31781600-31782000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:31781600-31782000	Flanking Active TSS	Colon Smooth Muscle	Colon

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