Variant report

Variant	rs2979260
Chromosome Location	chr8:8865923-8865924
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:8863320-8872107	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8859707..8862059-chr8:8864809..8869173,3	MCF-7	breast:
2	chr8:8865815..8868518-chr8:8878395..8880602,2	K562	blood:
3	chr8:8859129..8863024-chr8:8863037..8866949,8	K562	blood:
4	chr8:8634836..8637648-chr8:8864652..8866241,2	K562	blood:
5	chr8:8865434..8867706-chr8:8868292..8869978,2	MCF-7	breast:
6	chr8:8856242..8858466-chr8:8864849..8867398,2	K562	blood:
7	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:
8	chr8:8848435..8850169-chr8:8864195..8867321,3	K562	blood:
9	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

No data

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction
ENSG00000147324	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	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11782281	1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12677456	0.80[EUR][1000 genomes]
rs12681075	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs12682403	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13257208	0.80[EUR][1000 genomes]
rs17155071	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs2044388	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2082210	0.84[CHB][hapmap];0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2084076	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288669	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288670	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288671	0.82[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2288672	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2409119	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28693452	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2915248	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2915251	0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2915252	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2915253	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2921379	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2953800	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2953801	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2953808	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953809	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2956242	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2956243	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2956244	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2979246	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]
rs2979249	0.80[EUR][1000 genomes]
rs2979250	0.80[EUR][1000 genomes]
rs2979256	0.93[JPT][hapmap]
rs2979261	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2979262	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2979263	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2979264	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2979265	0.83[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2979266	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35076339	0.88[EUR][1000 genomes]
rs4081881	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4433148	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4472520	0.83[ASN][1000 genomes]
rs4551361	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4601317	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4636210	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841083	0.93[JPT][hapmap]
rs4841085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55654856	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57552272	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58254294	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58604216	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60664964	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6422353	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67831654	0.88[EUR][1000 genomes]
rs68132987	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68159296	0.85[EUR][1000 genomes]
rs6983008	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983030	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983503	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983504	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987223	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987558	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6990532	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6992896	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993244	0.85[ASN][1000 genomes]
rs7001457	0.82[EUR][1000 genomes]
rs7001518	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7005133	0.84[CHB][hapmap]
rs7006526	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7006798	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7007290	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7012685	0.80[EUR][1000 genomes]
rs7012954	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7012984	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73195758	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73195769	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73195777	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73195780	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73518370	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7357590	0.80[ASN][1000 genomes]
rs7357601	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7813388	0.94[CHB][hapmap];0.82[EUR][1000 genomes]
rs7824140	0.87[EUR][1000 genomes]
rs7839585	0.89[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs9644673	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9644696	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs987537	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs987538	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[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:121 , 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	chr8:8861600-8866600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:8861600-8866600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:8861600-8868200	Weak transcription	Brain Substantia Nigra	brain
6	chr8:8861600-8870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
8	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:8861800-8866000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:8861800-8866000	Weak transcription	Placenta	Placenta
12	chr8:8861800-8866200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:8861800-8866200	Weak transcription	Primary T cells from cord blood	blood
14	chr8:8861800-8866200	Weak transcription	Brain Germinal Matrix	brain
15	chr8:8861800-8866200	Weak transcription	Fetal Thymus	thymus
16	chr8:8861800-8866600	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:8861800-8866600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:8861800-8867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:8861800-8867200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:8861800-8869000	Weak transcription	Fetal Intestine Small	intestine
21	chr8:8861800-8870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:8861800-8870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:8861800-8870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:8861800-8870400	Weak transcription	Fetal Stomach	stomach
25	chr8:8861800-8870400	Weak transcription	Psoas Muscle	Psoas
26	chr8:8861800-8870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:8861800-8870600	Weak transcription	Thymus	Thymus
28	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
30	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:8861800-8875000	Weak transcription	Gastric	stomach
35	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
36	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
37	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
38	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
39	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
44	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
46	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:8861800-8892200	Weak transcription	Ovary	ovary
48	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
49	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea

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