Variant report

Variant	rs4253256
Chromosome Location	chr4:187159282-187159283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13136536	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4253236	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4253244	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9994208	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv830172	chr4:187012765-187168424	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv1022059	chr4:187082701-187183953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187131800-187181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:187146400-187172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:187147800-187162000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:187148000-187161600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:187148000-187173000	Weak transcription	Psoas Muscle	Psoas
6	chr4:187148200-187159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:187148200-187179200	Weak transcription	Lung	lung
8	chr4:187148400-187162000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:187148400-187164600	Weak transcription	Right Ventricle	heart
10	chr4:187148400-187172600	Weak transcription	Brain Anterior Caudate	brain
11	chr4:187148400-187179400	Weak transcription	Pancreas	Pancrea
12	chr4:187149600-187159400	Weak transcription	Fetal Intestine Small	intestine
13	chr4:187149800-187181600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:187149800-187186800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:187150000-187161000	Weak transcription	Aorta	Aorta
16	chr4:187150000-187162000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:187150200-187187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:187151000-187187200	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:187151200-187161200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:187151800-187173000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:187152000-187179400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:187152200-187169800	Weak transcription	Brain Substantia Nigra	brain
23	chr4:187154000-187182000	Weak transcription	Primary T cells from cord blood	blood
24	chr4:187156800-187179200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:187158000-187173000	Weak transcription	Left Ventricle	heart
26	chr4:187158400-187181400	Weak transcription	Fetal Intestine Large	intestine
27	chr4:187158600-187160200	Strong transcription	Liver	Liver
28	chr4:187159000-187159800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:187159000-187159800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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