Variant report

Variant	rs7822904
Chromosome Location	chr8:9534995-9534996
allele	C/T
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	RAD21	chr8:9534234-9535157	SK-N-SH	brain:	n/a	n/a
2	RUNX3	chr8:9534753-9535081	GM12878	blood:	n/a	chr8:9534952-9534961 chr8:9534952-9534961
3	CTCF	chr8:9534424-9535040	A549	lung:	n/a	n/a
4	CTCF	chr8:9534259-9535029	SK-N-SH	brain:	n/a	n/a
5	SMC3	chr8:9534293-9535082	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9527569..9530106-chr8:9532810..9535408,3	K562	blood:
2	chr8:9177588..9178247-chr8:9534308..9535009,2	MCF-7	breast:

Variant related genes	Relation type
TNKS	TF binding region
ENSG00000173273	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10087166	0.83[CEU][hapmap]
rs10087749	0.84[EUR][1000 genomes]
rs10088037	0.84[EUR][1000 genomes]
rs10088039	0.84[EUR][1000 genomes]
rs10088401	0.84[EUR][1000 genomes]
rs10097438	0.84[EUR][1000 genomes]
rs10098758	0.82[CEU][hapmap]
rs10101953	0.89[CEU][hapmap]
rs10102030	0.88[CEU][hapmap]
rs10103426	0.89[CEU][hapmap]
rs10103752	0.84[EUR][1000 genomes]
rs10111980	0.82[CEU][hapmap]
rs10112600	0.84[EUR][1000 genomes]
rs10112821	0.84[EUR][1000 genomes]
rs10464998	0.93[EUR][1000 genomes]
rs10465002	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10503380	0.83[CEU][hapmap]
rs10794712	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10903314	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs10903315	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs10903318	0.90[EUR][1000 genomes]
rs11249931	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11249938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11249941	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11249942	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11776236	0.81[CEU][hapmap]
rs11779335	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.93[EUR][1000 genomes]
rs11783635	0.93[EUR][1000 genomes]
rs11785927	0.93[EUR][1000 genomes]
rs11785987	0.93[EUR][1000 genomes]
rs11984585	0.94[CEU][hapmap]
rs11985349	0.89[CEU][hapmap]
rs11989409	0.85[EUR][1000 genomes]
rs11993506	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11994420	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11995920	0.83[CEU][hapmap]
rs12335063	0.86[EUR][1000 genomes]
rs12541617	0.87[CEU][hapmap]
rs12543959	0.85[CEU][hapmap]
rs12544371	0.84[CEU][hapmap]
rs12545912	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12674762	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs12675511	0.83[CEU][hapmap]
rs12675893	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs12676827	0.93[EUR][1000 genomes]
rs12677313	0.81[CEU][hapmap]
rs12679180	0.80[CEU][hapmap]
rs12680098	0.84[EUR][1000 genomes]
rs12680578	0.87[EUR][1000 genomes]
rs12681719	0.89[CEU][hapmap]
rs12682247	0.84[EUR][1000 genomes]
rs13249683	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13250951	0.81[CEU][hapmap]
rs13252338	0.87[EUR][1000 genomes]
rs13262577	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs13263409	0.85[CEU][hapmap]
rs13269437	0.92[EUR][1000 genomes]
rs13270518	0.85[CEU][hapmap]
rs13273033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13276750	0.85[EUR][1000 genomes]
rs13276965	0.91[EUR][1000 genomes]
rs28561748	0.86[EUR][1000 genomes]
rs28695930	0.84[EUR][1000 genomes]
rs28716261	0.86[EUR][1000 genomes]
rs35159871	0.93[EUR][1000 genomes]
rs4240626	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs4240629	1.00[CEU][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4240631	0.88[EUR][1000 genomes]
rs4240632	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4282575	0.84[EUR][1000 genomes]
rs4305907	0.93[EUR][1000 genomes]
rs4310210	0.83[EUR][1000 genomes]
rs4320547	0.81[EUR][1000 genomes]
rs4372006	0.82[EUR][1000 genomes]
rs4398920	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs4407883	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs4418340	0.86[EUR][1000 genomes]
rs4419813	0.93[EUR][1000 genomes]
rs4464970	0.85[EUR][1000 genomes]
rs4483157	0.84[EUR][1000 genomes]
rs4493905	0.82[EUR][1000 genomes]
rs4510870	0.84[EUR][1000 genomes]
rs4535744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4568626	0.84[EUR][1000 genomes]
rs4579533	0.86[EUR][1000 genomes]
rs4582568	0.82[EUR][1000 genomes]
rs4626603	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.93[EUR][1000 genomes]
rs4626604	0.93[EUR][1000 genomes]
rs4840431	0.86[EUR][1000 genomes]
rs4841174	0.89[CEU][hapmap]
rs4841179	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs4841182	0.86[EUR][1000 genomes]
rs4841183	0.86[EUR][1000 genomes]
rs4841197	0.94[CEU][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4841202	0.93[EUR][1000 genomes]
rs4841206	0.93[EUR][1000 genomes]
rs4841209	0.93[EUR][1000 genomes]
rs4841210	0.93[EUR][1000 genomes]
rs4841211	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs4841212	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs55917145	0.84[EUR][1000 genomes]
rs61176710	0.81[EUR][1000 genomes]
rs6601331	0.88[CEU][hapmap]
rs6601332	0.89[CEU][hapmap]
rs6601333	0.82[CEU][hapmap]
rs6601334	0.93[CEU][hapmap]
rs6601339	0.81[EUR][1000 genomes]
rs6601348	0.94[EUR][1000 genomes]
rs6601361	0.93[EUR][1000 genomes]
rs6651495	0.84[EUR][1000 genomes]
rs6651496	0.84[EUR][1000 genomes]
rs6651501	0.84[EUR][1000 genomes]
rs6651502	0.84[EUR][1000 genomes]
rs67480155	0.85[EUR][1000 genomes]
rs6980831	0.88[CEU][hapmap]
rs6981831	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6983608	0.93[EUR][1000 genomes]
rs6983762	0.93[EUR][1000 genomes]
rs6986386	0.82[CEU][hapmap]
rs6986929	0.91[EUR][1000 genomes]
rs6987698	0.84[EUR][1000 genomes]
rs6990590	0.88[CEU][hapmap]
rs6990779	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6994557	0.93[EUR][1000 genomes]
rs6995495	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs6996976	0.86[EUR][1000 genomes]
rs7006785	0.93[EUR][1000 genomes]
rs7010270	1.00[CEU][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7015787	0.93[EUR][1000 genomes]
rs7015963	0.93[EUR][1000 genomes]
rs7016561	0.91[EUR][1000 genomes]
rs7016839	0.93[EUR][1000 genomes]
rs7461376	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7462054	0.94[EUR][1000 genomes]
rs7462055	0.93[EUR][1000 genomes]
rs7462102	0.84[EUR][1000 genomes]
rs7462115	0.92[EUR][1000 genomes]
rs7462910	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.93[EUR][1000 genomes]
rs7464185	0.84[EUR][1000 genomes]
rs7464226	0.84[EUR][1000 genomes]
rs7465249	0.92[EUR][1000 genomes]
rs7812967	0.86[EUR][1000 genomes]
rs7814014	0.88[CEU][hapmap]
rs7817655	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822548	0.89[CEU][hapmap]
rs7822700	0.80[CEU][hapmap]
rs7832096	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7834823	0.88[CEU][hapmap]
rs7837815	0.94[EUR][1000 genomes]
rs7840706	0.85[CEU][hapmap]
rs7846140	0.89[CEU][hapmap]
rs9650638	1.00[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9650639	0.81[CEU][hapmap]

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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
2	chr8:9509400-9545000	Weak transcription	HSMM	muscle
3	chr8:9510400-9563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:9511000-9564200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:9511400-9537000	Weak transcription	Left Ventricle	heart
6	chr8:9511600-9554600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:9512400-9551400	Weak transcription	Dnd41	blood
8	chr8:9512600-9537200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:9512600-9543800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:9513200-9564200	Weak transcription	Ovary	ovary
11	chr8:9513200-9567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:9513600-9543600	Weak transcription	Fetal Stomach	stomach
14	chr8:9513800-9563600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:9521000-9544800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:9521400-9544200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:9522000-9545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:9522400-9546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:9523800-9545000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:9524200-9544600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:9528600-9536800	Weak transcription	Primary B cells from cord blood	blood
22	chr8:9528600-9536800	Weak transcription	Brain Angular Gyrus	brain
23	chr8:9529600-9545000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:9529600-9545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:9529600-9549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
27	chr8:9530000-9538800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:9530600-9543800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:9530600-9549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:9530800-9535200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:9530800-9543400	Weak transcription	Primary T cells from cord blood	blood
32	chr8:9530800-9549800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:9531200-9564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:9532000-9543400	Weak transcription	A549	lung
35	chr8:9532000-9543400	Weak transcription	GM12878-XiMat	blood
36	chr8:9532400-9543400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:9532600-9536800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:9533200-9536800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:9534000-9536400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:9534200-9535000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:9534200-9535400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:9534400-9535000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:9534400-9535000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr8:9534400-9535000	Enhancers	Liver	Liver
45	chr8:9534400-9535000	Enhancers	Brain Substantia Nigra	brain
46	chr8:9534400-9535000	Enhancers	Fetal Intestine Small	intestine
47	chr8:9534400-9535000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr8:9534400-9535200	Enhancers	Brain Hippocampus Middle	brain
49	chr8:9534400-9535600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:9534400-9535600	Enhancers	Skeletal Muscle Male	skeletal muscle

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