Variant report

Variant	rs4711281
Chromosome Location	chr6:31895241-31895242
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	FOXA1	chr6:31894875-31895543	HepG2	liver:	n/a	n/a
2	MYBL2	chr6:31894777-31895993	HepG2	liver:	n/a	n/a
3	STAT1	chr6:31895211-31895673	Hela-S3	cervix:	n/a	chr6:31895455-31895475 chr6:31895455-31895475
4	FOXA1	chr6:31894844-31895560	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:31894917-31895667	HepG2	liver:	n/a	n/a
6	HNF4G	chr6:31894960-31895588	HepG2	liver:	n/a	chr6:31895476-31895488 chr6:31895476-31895489 chr6:31895476-31895488 chr6:31895151-31895169 chr6:31895472-31895484 chr6:31895475-31895489 chr6:31895475-31895487
7	POLR2A	chr6:31895131-31895722	HepG2	liver:	n/a	n/a
8	CEBPB	chr6:31894960-31895399	HepG2	liver:	n/a	chr6:31895090-31895103 chr6:31895090-31895101 chr6:31895090-31895103 chr6:31895091-31895102 chr6:31895090-31895101
9	RCOR1	chr6:31895017-31895739	HepG2	liver:	n/a	n/a
10	NFIC	chr6:31894798-31895689	HepG2	liver:	n/a	n/a
11	TBP	chr6:31895002-31895786	HepG2	liver:	n/a	n/a
12	SRF	chr6:31894907-31895273	HepG2	liver:	n/a	n/a
13	MAX	chr6:31894786-31896042	HepG2	liver:	n/a	n/a
14	MYC	chr6:31895033-31895512	HepG2	liver:	n/a	n/a
15	USF2	chr6:31895085-31895728	HepG2	liver:	n/a	n/a
16	NRF1	chr6:31894826-31895315	HepG2	liver:	n/a	chr6:31895211-31895222
17	HNF4G	chr6:31894904-31895564	HepG2	liver:	n/a	chr6:31895476-31895488 chr6:31895476-31895489 chr6:31895476-31895488 chr6:31895151-31895169 chr6:31895472-31895484 chr6:31895475-31895489 chr6:31895475-31895487
18	BHLHE40	chr6:31894964-31895678	HepG2	liver:	n/a	n/a
19	TEAD4	chr6:31894686-31895785	HepG2	liver:	n/a	n/a
20	SP1	chr6:31894845-31895662	HepG2	liver:	n/a	n/a
21	ARID3A	chr6:31894926-31895476	HepG2	liver:	n/a	n/a
22	HDAC2	chr6:31894898-31895452	HepG2	liver:	n/a	n/a
23	JUND	chr6:31894996-31895374	HepG2	liver:	n/a	n/a
24	HEY1	chr6:31894883-31895824	HepG2	liver:	n/a	n/a
25	NFIC	chr6:31894726-31895958	HepG2	liver:	n/a	n/a
26	RXRA	chr6:31894955-31895625	HepG2	liver:	n/a	chr6:31895472-31895492 chr6:31895476-31895490 chr6:31895476-31895489 chr6:31895476-31895489
27	MAX	chr6:31895017-31895435	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:31895063-31895777	HepG2	liver:	n/a	n/a
29	MAZ	chr6:31895039-31895577	HepG2	liver:	n/a	n/a
30	FOXA2	chr6:31894614-31895818	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:31895097-31895469	HepG2	liver:	n/a	n/a
32	MAX	chr6:31894892-31896085	HepG2	liver:	n/a	n/a
33	USF1	chr6:31895057-31895571	HepG2	liver:	n/a	n/a
34	MAFK	chr6:31895034-31895546	HepG2	liver:	n/a	n/a
35	FOXA2	chr6:31894874-31895491	HepG2	liver:	n/a	n/a
36	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
37	MBD4	chr6:31894855-31895510	HepG2	liver:	n/a	n/a
38	STAT1	chr6:31895211-31895663	K562	blood:	n/a	chr6:31895455-31895475 chr6:31895455-31895475
39	RAD21	chr6:31894998-31895496	HepG2	liver:	n/a	n/a
40	CEBPD	chr6:31895062-31895676	HepG2	liver:	n/a	n/a
41	BHLHE40	chr6:31894995-31895366	HepG2	liver:	n/a	n/a
42	ELF1	chr6:31894920-31895580	HepG2	liver:	n/a	n/a
43	CEBPB	chr6:31894911-31895384	HepG2	liver:	n/a	chr6:31895090-31895103 chr6:31895090-31895101 chr6:31895090-31895103 chr6:31895091-31895102 chr6:31895090-31895101
44	FOXA1	chr6:31894789-31895564	HepG2	liver:	n/a	n/a
45	MAFF	chr6:31895031-31895558	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:31894892-31895957	HepG2	liver:	n/a	n/a
47	MAFK	chr6:31894876-31895647	HepG2	liver:	n/a	n/a
48	BHLHE40	chr6:31895047-31895374	HepG2	liver:	n/a	n/a
49	TCF12	chr6:31894990-31895423	HepG2	liver:	n/a	n/a
50	CEBPB	chr6:31894934-31895385	HepG2	liver:	n/a	chr6:31895090-31895103 chr6:31895090-31895101 chr6:31895090-31895103 chr6:31895091-31895102 chr6:31895090-31895101

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31895203-31895253	HL-60	blood:	n/a
2	chr6:31895203-31895253	SKMC	muscle:	n/a
3	chr6:31895203-31895253	SAEC	small airway:	n/a
4	chr6:31895203-31895253	HMEC	breast:	n/a
5	chr6:31895203-31895253	HCM	heart:	n/a
6	chr6:31895203-31895253	Hepatocyte	liver:	n/a
7	chr6:31895203-31895253	CMK	blood:	n/a
8	chr6:31895203-31895253	PANC-1	pancreas:	n/a
9	chr6:31895203-31895253	PrEC	prostate:	n/a
10	chr6:31895203-31895253	Caco-2	colon:	n/a
11	chr6:31895203-31895253	BJ	skin:	n/a
12	chr6:31895203-31895253	ECC-1	luminal epithelium:	n/a
13	chr6:31895203-31895253	HEEpiC	esophagus:	n/a
14	chr6:31895203-31895253	AoSMC	blood vessel:	n/a
15	chr6:31895203-31895253	LNCaP	prostate:	n/a
16	chr6:31895203-31895253	MCF-7	breast:	n/a
17	chr6:31895203-31895253	SK-N-MC	brain:	n/a
18	chr6:31895203-31895253	HEK293	kidney:	embryo
19	chr6:31895203-31895253	GM19239	blood:	n/a
20	chr6:31895203-31895253	HAEpiC	amniotic membrane:	n/a
21	chr6:31895203-31895253	HRCEpiC	kidney:	n/a
22	chr6:31895203-31895253	HepG2	liver:	n/a
23	chr6:31895203-31895253	HCT-116	colon:	n/a
24	chr6:31895203-31895253	MCF10A-Er-Src	breast:	n/a
25	chr6:31895203-31895253	ProgFib	skin:	n/a
26	chr6:31895203-31895253	GM06990	blood:	n/a
27	chr6:31895203-31895253	NB4	blood:	n/a
28	chr6:31895203-31895253	NHDF-neo	bronchial:	n/a
29	chr6:31895203-31895253	NT2-D1	testis:	n/a
30	chr6:31895203-31895253	ovcar-3	ovarian:	n/a
31	chr6:31895203-31895253	H1-hESC	embryonic stem cell:	embryo
32	chr6:31895203-31895253	HRPEpiC	eye:	n/a
33	chr6:31895203-31895253	HCPEpiC	choroid plexus:	n/a
34	chr6:31895203-31895253	GM12891	blood:	n/a
35	chr6:31895203-31895253	A549	lung:	n/a
36	chr6:31895203-31895253	RPTEC	kidney:	n/a
37	chr6:31895203-31895253	HUVEC	blood vessel:	n/a
38	chr6:31895203-31895253	Hela-S3	cervix:	n/a
39	chr6:31895203-31895253	PFSK-1	brain:	n/a
40	chr6:31895203-31895253	HNPCEpiC	eye:	n/a
41	chr6:31895203-31895253	AG10803	skin:	n/a
42	chr6:31895203-31895253	IMR90	lung:	fetal
43	chr6:31895203-31895253	NHBE	bronchial:	n/a
44	chr6:31895203-31895253	HCF	heart:	n/a
45	chr6:31895203-31895253	AG09319	gingival:	n/a
46	chr6:31895203-31895253	HPAEpiC	pulmonary alveolar:	n/a
47	chr6:31895203-31895253	GM12878	blood:	n/a
48	chr6:31895203-31895253	T-47D	breast:	n/a
49	chr6:31895203-31895253	NH-A	brain:	n/a
50	chr6:31895203-31895253	K562	blood:	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
CFB	TF binding region
ENSG00000244255	TF binding region
C2	TF binding region
CFB	CpG island
ENSG00000244255	CpG island
C2	CpG island
ENSG00000204366	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000221267	Chromatin interaction
ENSG00000204356	Chromatin interaction
ENSG00000243649	Chromatin interaction
ENSG00000204351	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2071290	1.00[AFR][1000 genomes]
rs2075701	1.00[AFR][1000 genomes]
rs2242568	1.00[AFR][1000 genomes]
rs2269428	1.00[AFR][1000 genomes]
rs2280773	1.00[AFR][1000 genomes]
rs3749961	1.00[AFR][1000 genomes]
rs3749963	1.00[AFR][1000 genomes]
rs3895064	1.00[AFR][1000 genomes]
rs4713492	1.00[AFR][1000 genomes]
rs4713504	1.00[AFR][1000 genomes]
rs4959020	1.00[AFR][1000 genomes]
rs4959022	1.00[AFR][1000 genomes]
rs4959023	1.00[AFR][1000 genomes]
rs4959082	1.00[AFR][1000 genomes]
rs57967962	1.00[AFR][1000 genomes]
rs58912491	1.00[AFR][1000 genomes]
rs9800604	1.00[AFR][1000 genomes]

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31890200-31895400	Weak transcription	Lung	lung
2	chr6:31891400-31896400	Weak transcription	Small Intestine	intestine
3	chr6:31894400-31895600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:31894800-31895600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:31895000-31895400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:31895000-31895400	Enhancers	Fetal Intestine Large	intestine
7	chr6:31895000-31895400	Enhancers	Fetal Intestine Small	intestine
8	chr6:31895000-31895400	Enhancers	HSMMtube	muscle
9	chr6:31895000-31895400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:31895000-31895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:31895000-31896400	Active TSS	Liver	Liver
12	chr6:31895200-31895400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:31895200-31895400	Enhancers	Placenta	Placenta
14	chr6:31895200-31896000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:31895200-31896000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:31895200-31896000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:31895200-31896000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:31895200-31896000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:31895200-31896000	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr6:31895200-31896400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr6:31895200-31896600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr6:31895200-31896600	Active TSS	Rectal Mucosa Donor 29	rectum

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