Variant report

Variant	rs3857171
Chromosome Location	chr4:7005753-7005754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7003678..7005841-chr4:7015045..7016665,2	K562	blood:
2	chr4:7004705..7009453-chr4:7009806..7014166,7	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10012590	0.81[ASN][1000 genomes]
rs10025310	0.81[ASN][1000 genomes]
rs10516181	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937772	0.82[ASN][1000 genomes]
rs10937774	0.89[EUR][1000 genomes]
rs10937776	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732898	0.88[ASN][1000 genomes]
rs11938701	0.81[ASN][1000 genomes]
rs11944897	0.81[ASN][1000 genomes]
rs12503027	0.81[ASN][1000 genomes]
rs13107989	0.81[ASN][1000 genomes]
rs13148395	0.81[ASN][1000 genomes]
rs13149923	0.81[ASN][1000 genomes]
rs2301817	0.81[ASN][1000 genomes]
rs2301818	0.87[ASN][1000 genomes]
rs2301819	0.87[ASN][1000 genomes]
rs2359194	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3188939	0.81[ASN][1000 genomes]
rs34219101	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34221933	0.81[ASN][1000 genomes]
rs35680216	0.81[ASN][1000 genomes]
rs3892490	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3894945	0.81[ASN][1000 genomes]
rs4234793	0.81[ASN][1000 genomes]
rs4296677	0.82[ASN][1000 genomes]
rs4458452	0.82[ASN][1000 genomes]
rs4544710	0.81[ASN][1000 genomes]
rs4645214	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4689059	0.81[AFR][1000 genomes]
rs4689568	0.88[ASN][1000 genomes]
rs4689573	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4689575	0.81[ASN][1000 genomes]
rs55822670	0.94[ASN][1000 genomes]
rs62289166	0.81[ASN][1000 genomes]
rs6446559	0.81[ASN][1000 genomes]
rs66841627	0.81[ASN][1000 genomes]
rs6811496	0.81[ASN][1000 genomes]
rs6816882	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818744	0.87[ASN][1000 genomes]
rs6831129	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6834102	0.81[ASN][1000 genomes]
rs6840780	0.81[ASN][1000 genomes]
rs6854776	0.81[ASN][1000 genomes]
rs73202120	0.89[AFR][1000 genomes]
rs7655563	0.88[ASN][1000 genomes]
rs7655773	0.81[ASN][1000 genomes]
rs7658198	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7661462	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7661952	0.81[ASN][1000 genomes]
rs7673901	0.81[ASN][1000 genomes]
rs7685667	0.81[ASN][1000 genomes]
rs7693321	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180337	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv593547	chr4:7002344-7032180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6990400-7008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:6993200-7006800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:6993800-7008400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:6994000-7008600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
7	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
8	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:6994400-7013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:6994600-7006800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr4:6994600-7021400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:6994800-7007600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:6995000-7009200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:6995000-7020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:6995200-7008400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:6995200-7008600	Strong transcription	Fetal Intestine Small	intestine
17	chr4:6995400-7006600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr4:6995400-7007800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:6995400-7008600	Strong transcription	Fetal Intestine Large	intestine
20	chr4:6995400-7013600	Strong transcription	Fetal Thymus	thymus
21	chr4:6995600-7006800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:6995800-7006800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr4:6995800-7008200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:6995800-7008400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:6996000-7006400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:6996000-7014800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:6996400-7007400	Strong transcription	Fetal Brain Female	brain
30	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:6996600-7021400	Strong transcription	Brain Germinal Matrix	brain
32	chr4:6997600-7006400	Strong transcription	Left Ventricle	heart
33	chr4:6997800-7013800	Strong transcription	Thymus	Thymus
34	chr4:6998000-7006800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:6999000-7006800	Strong transcription	Lung	lung
36	chr4:7000000-7006400	Strong transcription	Colon Smooth Muscle	Colon
37	chr4:7000000-7006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:7000200-7021600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:7000400-7006400	Strong transcription	Gastric	stomach
40	chr4:7000400-7008200	Strong transcription	HepG2	liver
41	chr4:7000600-7006600	Strong transcription	Primary B cells from cord blood	blood
42	chr4:7000600-7006800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr4:7000600-7007600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:7000600-7034400	Strong transcription	Dnd41	blood
45	chr4:7000800-7006400	Strong transcription	Aorta	Aorta
46	chr4:7000800-7006400	Strong transcription	Right Ventricle	heart
47	chr4:7000800-7006600	Strong transcription	Rectal Smooth Muscle	rectum
48	chr4:7000800-7006800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:7000800-7006800	Strong transcription	Colonic Mucosa	Colon
50	chr4:7000800-7006800	Strong transcription	Rectal Mucosa Donor 31	rectum

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