Variant report

Variant	rs538032432
Chromosome Location	chr6:31895591-31895592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr6:31894777-31895993	HepG2	liver:	n/a	n/a
2	STAT1	chr6:31895211-31895673	Hela-S3	cervix:	n/a	chr6:31895455-31895475 chr6:31895455-31895475
3	POLR2A	chr6:31894917-31895667	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:31895131-31895722	HepG2	liver:	n/a	n/a
5	RCOR1	chr6:31895017-31895739	HepG2	liver:	n/a	n/a
6	NFIC	chr6:31894798-31895689	HepG2	liver:	n/a	n/a
7	TBP	chr6:31895002-31895786	HepG2	liver:	n/a	n/a
8	MAX	chr6:31894786-31896042	HepG2	liver:	n/a	n/a
9	USF2	chr6:31895085-31895728	HepG2	liver:	n/a	n/a
10	BHLHE40	chr6:31894964-31895678	HepG2	liver:	n/a	n/a
11	TEAD4	chr6:31894686-31895785	HepG2	liver:	n/a	n/a
12	SP1	chr6:31894845-31895662	HepG2	liver:	n/a	n/a
13	HEY1	chr6:31894883-31895824	HepG2	liver:	n/a	n/a
14	NFIC	chr6:31894726-31895958	HepG2	liver:	n/a	n/a
15	RXRA	chr6:31894955-31895625	HepG2	liver:	n/a	chr6:31895472-31895492 chr6:31895476-31895490 chr6:31895476-31895489 chr6:31895476-31895489
16	POLR2A	chr6:31895063-31895777	HepG2	liver:	n/a	n/a
17	FOXA2	chr6:31894614-31895818	HepG2	liver:	n/a	n/a
18	MAX	chr6:31894892-31896085	HepG2	liver:	n/a	n/a
19	HNF4A	chr6:31894938-31895609	HepG2	liver:	n/a	chr6:31895476-31895488 chr6:31895476-31895489 chr6:31895476-31895488 chr6:31895151-31895169 chr6:31895152-31895167 chr6:31895472-31895484 chr6:31895475-31895489 chr6:31895475-31895487
20	STAT1	chr6:31895262-31895680	K562	blood:	n/a	chr6:31895455-31895475 chr6:31895665-31895676 chr6:31895455-31895475
21	STAT1	chr6:31895211-31895663	K562	blood:	n/a	chr6:31895455-31895475 chr6:31895455-31895475
22	CEBPD	chr6:31895062-31895676	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:31894892-31895957	HepG2	liver:	n/a	n/a
24	MAFK	chr6:31894876-31895647	HepG2	liver:	n/a	n/a
25	CHD2	chr6:31895476-31895698	HepG2	liver:	n/a	n/a
26	HNF4A	chr6:31894871-31895596	HepG2	liver:	n/a	chr6:31895476-31895488 chr6:31895476-31895489 chr6:31895476-31895488 chr6:31895151-31895169 chr6:31895152-31895167 chr6:31895472-31895484 chr6:31895475-31895489 chr6:31895475-31895487
27	MBD4	chr6:31894884-31895870	HepG2	liver:	n/a	n/a
28	EP300	chr6:31894884-31895693	HepG2	liver:	n/a	chr6:31895088-31895102
29	EP300	chr6:31894933-31895632	HepG2	liver:	n/a	chr6:31895088-31895102
30	SMC3	chr6:31894959-31895757	HepG2	liver:	n/a	n/a
31	HEY1	chr6:31894940-31895808	HepG2	liver:	n/a	n/a
32	HNF4A	chr6:31894986-31895621	HepG2	liver:	n/a	chr6:31895476-31895488 chr6:31895605-31895613 chr6:31895476-31895489 chr6:31895476-31895488 chr6:31895151-31895169 chr6:31895152-31895167 chr6:31895472-31895484 chr6:31895475-31895489 chr6:31895475-31895487
33	ELF1	chr6:31894906-31895670	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:31895075-31895901	HepG2	liver:	n/a	n/a
35	REST	chr6:31894996-31895656	HepG2	liver:	n/a	chr6:31895441-31895454
36	MXI1	chr6:31895009-31895673	HepG2	liver:	n/a	n/a
37	HDAC2	chr6:31894900-31895833	HepG2	liver:	n/a	chr6:31895684-31895698 chr6:31895664-31895678
38	MYBL2	chr6:31894667-31895617	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31894637..31897740-chr6:31910021..31912431,3	K562	blood:
2	chr6:31894637..31897073-chr6:31910021..31912431,2	K562	blood:
3	chr6:31868781..31871119-chr6:31892943..31895660,2	MCF-7	breast:
4	chr6:31894560..31897888-chr6:31924484..31926934,4	K562	blood:
5	chr6:31893919..31897907-chr6:31913762..31916831,4	MCF-7	breast:
6	chr6:31885324..31888930-chr6:31894115..31898580,5	MCF-7	breast:
7	chr6:31894560..31897888-chr6:31924484..31928410,3	K562	blood:

Variant related genes	Relation type
C2	TF binding region
ENSG00000243649	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000221267	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204356	Chromatin interaction
ENSG00000204351	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
12	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
13	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
14	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
15	nsv508399	chr6:31829474-31902423	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
16	nsv462875	chr6:31838441-31907147	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
17	nsv601960	chr6:31838441-31907147	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
18	nsv601961	chr6:31868322-32484368	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
19	nsv427751	chr6:31871512-32092843	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
20	nsv428141	chr6:31871512-32092843	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
21	esv2758043	chr6:31871512-32209113	Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
22	esv2759415	chr6:31871512-32209113	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
23	nsv830628	chr6:31887554-31947600	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
24	nsv884511	chr6:31894818-31903121	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31891400-31896400	Weak transcription	Small Intestine	intestine
2	chr6:31894400-31895600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:31894800-31895600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:31895000-31895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:31895000-31896400	Active TSS	Liver	Liver
6	chr6:31895200-31896000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:31895200-31896000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:31895200-31896000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:31895200-31896000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:31895200-31896000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:31895200-31896000	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr6:31895200-31896400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr6:31895200-31896600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:31895200-31896600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:31895400-31895600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:31895400-31895600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr6:31895400-31895600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:31895400-31895600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr6:31895400-31895600	Flanking Active TSS	Placenta	Placenta
20	chr6:31895400-31895600	Flanking Active TSS	Lung	lung
21	chr6:31895400-31895600	Flanking Active TSS	HSMMtube	muscle
22	chr6:31895400-31895800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:31895400-31895800	Active TSS	Brain Anterior Caudate	brain
24	chr6:31895400-31895800	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr6:31895400-31895800	Enhancers	HSMM	muscle
26	chr6:31895400-31895800	Enhancers	K562	blood
27	chr6:31895400-31896000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:31895400-31896000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:31895400-31896000	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr6:31895400-31896000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr6:31895400-31896000	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:31895400-31896000	Active TSS	Rectal Smooth Muscle	rectum
33	chr6:31895400-31896000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr6:31895400-31896000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr6:31895400-31896600	Active TSS	Colonic Mucosa	Colon

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