Variant report

Variant	rs9297997
Chromosome Location	chr8:59471187-59471188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59470291..59472157-chr8:59493284..59495142,2	K562	blood:
2	chr8:59467543..59471548-chr8:59563276..59565061,3	K562	blood:
3	chr8:59434915..59437240-chr8:59469391..59471843,2	MCF-7	breast:
4	chr8:59469692..59471649-chr8:59473194..59476156,2	MCF-7	breast:
5	chr8:59463439..59469524-chr8:59469766..59475373,11	MCF-7	breast:
6	chr8:59464522..59468575-chr8:59469283..59472849,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10085973	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10090425	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10090964	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10092359	0.88[EUR][1000 genomes]
rs10094910	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099153	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099240	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099912	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10102709	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104292	0.94[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10104568	0.81[JPT][hapmap]
rs10110111	0.82[EUR][1000 genomes]
rs10111052	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111506	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10113750	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1023649	0.87[GIH][hapmap];0.83[MEX][hapmap]
rs10504256	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1050488	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs1050504	1.00[CEU][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs11775194	0.82[CEU][hapmap]
rs11776003	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11782455	0.87[CEU][hapmap]
rs11783174	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12335008	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543344	0.81[JPT][hapmap]
rs12674568	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12676593	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677290	0.94[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679938	0.86[TSI][hapmap]
rs12680104	0.82[EUR][1000 genomes]
rs12680996	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1427162	0.81[JPT][hapmap]
rs1582824	0.93[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap]
rs16923562	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16923564	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16923588	0.87[EUR][1000 genomes]
rs17263989	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs1976162	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs1991359	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279460	0.87[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs2279462	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs2634527	0.82[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs28429491	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28650441	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28656336	0.88[EUR][1000 genomes]
rs28809811	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3739327	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3808609	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs3816846	0.87[CEU][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap]
rs3903445	0.87[GIH][hapmap];0.84[MEX][hapmap]
rs4282557	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4400366	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4400367	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4579515	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55774738	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59979442	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471729	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471731	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6981601	0.88[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6984439	0.81[JPT][hapmap]
rs6986129	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987187	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6995115	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7009248	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7009374	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7011095	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7014398	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72647434	0.87[EUR][1000 genomes]
rs72647435	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72647443	0.87[EUR][1000 genomes]
rs7817515	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7825996	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826122	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs7826603	0.85[EUR][1000 genomes]
rs7827910	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840932	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843989	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7844231	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs9297995	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297996	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297998	0.94[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297999	1.00[CEU][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59465000-59472200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:59466400-59472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:59466600-59472600	Weak transcription	Esophagus	oesophagus
4	chr8:59466600-59472600	Weak transcription	Pancreas	Pancrea
5	chr8:59466800-59472400	Weak transcription	Aorta	Aorta
6	chr8:59466800-59472800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:59466800-59479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:59467000-59472200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:59467000-59472400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:59467000-59472600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:59467000-59472800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:59467600-59472400	Weak transcription	Fetal Intestine Large	intestine
15	chr8:59467600-59479200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:59467800-59471200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:59467800-59471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:59467800-59471200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:59467800-59471400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:59467800-59472000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:59468000-59471200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:59468000-59472200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:59468000-59472200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:59468000-59472200	Weak transcription	Brain Germinal Matrix	brain
25	chr8:59468000-59472200	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:59468000-59472600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:59468000-59472800	Weak transcription	Colonic Mucosa	Colon
28	chr8:59468000-59473000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:59468000-59475800	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:59468000-59476600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:59468000-59479000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:59468000-59479600	Weak transcription	HepG2	liver
33	chr8:59468000-59480000	Weak transcription	Brain Substantia Nigra	brain
34	chr8:59468200-59471200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:59468200-59471200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:59468200-59471200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:59468200-59471400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:59468200-59472200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:59468200-59472200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:59468200-59472200	Weak transcription	HSMMtube	muscle
41	chr8:59468200-59472200	Weak transcription	NH-A	brain
42	chr8:59468200-59472400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:59468200-59472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:59468200-59472400	Weak transcription	Thymus	Thymus
45	chr8:59468200-59474200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:59468200-59480000	Weak transcription	Fetal Kidney	kidney
47	chr8:59468400-59471200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:59468400-59472200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:59468400-59472200	Weak transcription	Fetal Thymus	thymus
50	chr8:59468400-59472200	Weak transcription	Small Intestine	intestine

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