Variant report

Variant	rs7859396
Chromosome Location	chr9:71517596-71517597
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10114785	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10117744	0.82[CHB][hapmap]
rs10117789	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10119445	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs10121974	0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10124098	0.81[AMR][1000 genomes]
rs10869538	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs11143755	0.86[EUR][1000 genomes]
rs11143975	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11143976	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11143977	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11144313	0.96[ASN][1000 genomes]
rs12336788	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12336829	1.00[ASN][1000 genomes]
rs12337137	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12338217	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12341382	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12341508	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12341625	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12345359	1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12348156	0.97[ASN][1000 genomes]
rs12348451	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs12349555	0.97[ASN][1000 genomes]
rs12349647	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs12350004	0.97[ASN][1000 genomes]
rs12350205	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12351476	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs12351485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12351519	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs12352746	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1414945	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2027023	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2039624	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28371821	0.97[ASN][1000 genomes]
rs28375745	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28406181	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28444745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750375	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750376	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763607	1.00[CHB][hapmap]
rs3829061	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4237272	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs56994943	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58625220	0.82[AFR][1000 genomes]
rs58984094	0.86[EUR][1000 genomes]
rs61547334	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6560418	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018854	1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs7019202	0.86[ASN][1000 genomes]
rs7021259	0.86[EUR][1000 genomes]
rs7024695	0.83[ASN][1000 genomes]
rs7024959	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7027620	1.00[CHB][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7035068	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7035892	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs7037674	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7041194	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7046642	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7047250	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs7048275	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73646761	0.86[EUR][1000 genomes]
rs7847379	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7849727	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7851905	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7852244	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7855274	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7863960	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7865800	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7869689	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7870383	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7875472	1.00[CHB][hapmap]
rs953036	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS 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	25 gene(s)	inside rSNPs	diseases
15	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
2	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
3	chr9:71510600-71532400	Weak transcription	Small Intestine	intestine
4	chr9:71510800-71519800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:71511200-71519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:71511600-71519800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:71511800-71519200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:71512000-71519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:71512000-71520000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:71512200-71548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:71512400-71517600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:71512400-71520200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr9:71512800-71520200	Weak transcription	Primary T cells from cord blood	blood
14	chr9:71512800-71527600	Weak transcription	Pancreas	Pancrea
15	chr9:71513000-71520000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr9:71513800-71518400	Weak transcription	Fetal Intestine Large	intestine
17	chr9:71513800-71519000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:71513800-71519200	Weak transcription	Gastric	stomach
19	chr9:71514000-71518000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:71514000-71532000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:71514200-71518200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:71514200-71519000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:71514200-71520000	Weak transcription	Fetal Intestine Small	intestine
24	chr9:71514200-71528600	Weak transcription	Left Ventricle	heart
25	chr9:71514200-71553600	Weak transcription	Aorta	Aorta
26	chr9:71514200-71557800	Weak transcription	Lung	lung
27	chr9:71514400-71532000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr9:71514600-71519000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:71515000-71519000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:71515000-71519800	Weak transcription	Right Atrium	heart
31	chr9:71515200-71521200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:71515600-71525200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:71516200-71527600	Weak transcription	GM12878-XiMat	blood
34	chr9:71517000-71517600	Enhancers	Fetal Heart	heart
35	chr9:71517000-71519200	Strong transcription	Primary B cells from cord blood	blood
36	chr9:71517400-71532400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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