Variant report

Variant	rs4253811
Chromosome Location	chr4:187186356-187186357
allele	C/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	POLR2A	chr4:187186336-187186420	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:187186268-187186664	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
F11	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4253335	1.00[YRI][hapmap]
rs4253340	1.00[YRI][hapmap]
rs4253341	1.00[YRI][hapmap]
rs4253342	1.00[YRI][hapmap]
rs4253344	1.00[YRI][hapmap]
rs4253351	1.00[YRI][hapmap]
rs4253353	1.00[YRI][hapmap]
rs4253355	1.00[YRI][hapmap]
rs4253356	1.00[YRI][hapmap]
rs4253802	1.00[AMR][1000 genomes]
rs4253838	1.00[AMR][1000 genomes]
rs4253849	1.00[EUR][1000 genomes]
rs6419948	1.00[EUR][1000 genomes]
rs72646263	1.00[AMR][1000 genomes]
rs72646301	1.00[AMR][1000 genomes]
rs7669220	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
3	nsv931977	chr4:186912987-187364756	Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv869299	chr4:186958290-187192748	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1033203	chr4:186990348-187333476	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv537431	chr4:186990348-187333476	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv461864	chr4:187006806-187257004	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv596392	chr4:187006806-187257004	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv461865	chr4:187072383-187366649	Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv596401	chr4:187072383-187366649	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv881472	chr4:187152142-187187005	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1034638	chr4:187185385-187213477	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr4:187149800-187186800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:187150200-187187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:187151000-187187200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:187177400-187191800	Weak transcription	Right Atrium	heart
5	chr4:187182200-187187600	Weak transcription	Fetal Lung	lung
6	chr4:187184000-187186800	Enhancers	Liver	Liver
7	chr4:187185200-187186800	Enhancers	HepG2	liver
8	chr4:187185200-187187000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:187185400-187186400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:187185400-187187000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:187185400-187187000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:187185600-187186800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:187185600-187186800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:187185800-187186400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:187185800-187186600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:187186000-187186400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:187186000-187187000	Enhancers	Pancreas	Pancrea
18	chr4:187186000-187187200	Enhancers	Fetal Intestine Large	intestine
19	chr4:187186000-187187600	Enhancers	Fetal Intestine Small	intestine
20	chr4:187186000-187188200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:187186200-187186400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr4:187186200-187187000	Enhancers	HUES6 Cell Line	embryonic stem cell

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