Variant report

Variant	rs2979246
Chromosome Location	chr8:8874972-8874973
allele	C/G
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	POLR2A	chr8:8874803-8879040	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8873907..8877820-chr8:8877960..8882381,6	K562	blood:
2	chr8:8871151..8874169-chr8:8874496..8877861,4	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1036081	0.87[ASN][1000 genomes]
rs1045529	0.82[CHD][hapmap]
rs11782281	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12681075	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12682403	0.87[ASN][1000 genomes]
rs13257208	0.86[EUR][1000 genomes]
rs1562211	0.82[CHD][hapmap]
rs17155071	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2044387	0.81[JPT][hapmap]
rs2044388	0.89[CHB][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs2082210	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2084076	0.82[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2288669	0.82[CHB][hapmap];0.92[JPT][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2288670	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2288671	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2288672	0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2409119	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28397127	0.82[ASN][1000 genomes]
rs28693452	0.87[ASN][1000 genomes]
rs2915248	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915251	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2915252	0.88[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2915253	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2921374	0.84[EUR][1000 genomes]
rs2921379	0.82[CHB][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs2953800	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2953801	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2953803	1.00[CEU][hapmap]
rs2953808	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2953809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953810	0.81[ASN][1000 genomes]
rs2956242	0.88[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2956243	0.94[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2956244	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2979249	0.86[EUR][1000 genomes]
rs2979250	0.86[EUR][1000 genomes]
rs2979256	1.00[JPT][hapmap]
rs2979260	0.88[CHB][hapmap];0.92[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2979261	0.91[JPT][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2979262	0.82[EUR][1000 genomes]
rs2979263	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2979264	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2979265	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2979266	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35076339	0.81[EUR][1000 genomes]
rs4081881	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4433148	0.87[ASN][1000 genomes]
rs4472520	0.89[ASN][1000 genomes]
rs4551361	0.87[ASN][1000 genomes]
rs4601317	0.87[ASN][1000 genomes]
rs4636210	0.87[ASN][1000 genomes]
rs4841083	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4841084	0.90[ASN][1000 genomes]
rs4841085	0.88[CHB][hapmap];0.97[LWK][hapmap];0.87[YRI][hapmap]
rs55654856	0.86[ASN][1000 genomes]
rs57552272	0.87[ASN][1000 genomes]
rs58254294	0.87[ASN][1000 genomes]
rs58604216	0.86[ASN][1000 genomes]
rs60664964	0.87[ASN][1000 genomes]
rs6422353	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67831654	0.81[EUR][1000 genomes]
rs68132987	0.87[ASN][1000 genomes]
rs68159296	0.80[ASN][1000 genomes]
rs6983008	0.87[ASN][1000 genomes]
rs6983030	0.87[ASN][1000 genomes]
rs6983503	0.87[ASN][1000 genomes]
rs6983504	0.87[ASN][1000 genomes]
rs6987223	0.87[ASN][1000 genomes]
rs6987558	0.84[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6990532	0.87[ASN][1000 genomes]
rs6992896	0.87[ASN][1000 genomes]
rs6993244	0.89[ASN][1000 genomes]
rs7001518	0.86[ASN][1000 genomes]
rs7005133	0.83[CHB][hapmap]
rs7006526	0.87[ASN][1000 genomes]
rs7006798	0.85[ASN][1000 genomes]
rs7012954	0.87[ASN][1000 genomes]
rs7012984	0.87[ASN][1000 genomes]
rs73195769	0.81[EUR][1000 genomes]
rs73195780	0.87[ASN][1000 genomes]
rs73518370	0.87[ASN][1000 genomes]
rs7357590	0.85[ASN][1000 genomes]
rs7357601	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7813388	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7824140	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7839585	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs987537	0.82[CHB][hapmap];0.92[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs987538	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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 miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
4	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:8861800-8875000	Weak transcription	Gastric	stomach
8	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
9	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
10	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
11	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
12	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
19	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:8861800-8892200	Weak transcription	Ovary	ovary
21	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
22	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
24	chr8:8865400-8878800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:8865400-8886000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:8865800-8879600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:8868600-8875000	Weak transcription	Brain Substantia Nigra	brain
28	chr8:8868800-8877000	Strong transcription	Fetal Thymus	thymus
29	chr8:8869000-8880600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:8869200-8876400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:8870000-8879000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:8870200-8883600	Weak transcription	Stomach Mucosa	stomach
33	chr8:8870600-8892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:8871200-8876400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:8871200-8876600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:8871200-8900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:8871400-8892800	Weak transcription	HSMMtube	muscle
38	chr8:8871800-8875000	Weak transcription	Psoas Muscle	Psoas
39	chr8:8871800-8877200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:8871800-8887200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:8871800-8894400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:8872000-8875000	Weak transcription	Adipose Nuclei	Adipose
43	chr8:8872000-8875200	Weak transcription	Osteobl	bone
44	chr8:8872000-8876000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:8872000-8878600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:8872000-8880200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:8872000-8881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:8872000-8891200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:8872200-8875000	Weak transcription	NH-A	brain
50	chr8:8872200-8876200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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