Variant report

Variant	rs2956243
Chromosome Location	chr8:8864834-8864835
allele	A/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	IRF1	chr8:8864753-8865400	K562	blood:	n/a	chr8:8865267-8865276
2	CEBPB	chr8:8864774-8864893	K562	blood:	n/a	chr8:8864834-8864847
3	STAT3	chr8:8864100-8865360	MCF10A-Er-Src	breast:	n/a	chr8:8864331-8864351 chr8:8865266-8865275 chr8:8865267-8865276
4	POLR2A	chr8:8863320-8872107	K562	blood:	n/a	n/a
5	STAT3	chr8:8864046-8864850	MCF10A-Er-Src	breast:	n/a	chr8:8864331-8864351

No.	Distal block	Cell Line	Cell type
1	chr8:8859707..8862059-chr8:8864809..8869173,3	MCF-7	breast:
2	chr8:8859158..8862299-chr8:8862308..8864941,3	K562	blood:
3	chr8:8859129..8863024-chr8:8863037..8866949,8	K562	blood:
4	chr8:8634836..8637648-chr8:8864652..8866241,2	K562	blood:
5	chr8:8848435..8850169-chr8:8864195..8867321,3	K562	blood:
6	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

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

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10104303	0.82[ASN][1000 genomes]
rs10105455	0.84[ASN][1000 genomes]
rs10113609	0.84[ASN][1000 genomes]
rs1025394	0.85[ASN][1000 genomes]
rs1025395	0.83[ASN][1000 genomes]
rs1036081	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1045529	0.95[CHD][hapmap]
rs11782281	0.94[CHB][hapmap];0.86[EUR][1000 genomes]
rs11784393	0.84[CHB][hapmap]
rs12677456	0.81[EUR][1000 genomes]
rs12681075	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12682403	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13257208	0.81[EUR][1000 genomes]
rs1562211	0.84[CHB][hapmap];0.95[CHD][hapmap]
rs17155071	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2044387	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs2044388	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs2082210	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2084076	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs2288669	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288670	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288671	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2288672	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2409117	0.80[ASN][1000 genomes]
rs2409118	0.80[ASN][1000 genomes]
rs2409119	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28397127	0.89[ASN][1000 genomes]
rs28490389	0.84[ASN][1000 genomes]
rs28693452	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2915248	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2915251	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2915252	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915253	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2921374	0.80[EUR][1000 genomes]
rs2921379	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[EUR][1000 genomes]
rs2953800	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2953801	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2953808	0.89[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2953809	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2956242	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2956244	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2979246	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]
rs2979249	0.81[EUR][1000 genomes]
rs2979250	0.81[EUR][1000 genomes]
rs2979256	1.00[JPT][hapmap]
rs2979260	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]
rs2979261	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2979262	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2979263	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979264	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979265	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2979266	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35076339	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4081881	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4433148	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4472520	0.96[ASN][1000 genomes]
rs4551361	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4601317	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4636210	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4840383	0.82[ASN][1000 genomes]
rs4841083	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4841084	0.85[ASN][1000 genomes]
rs4841085	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs55654856	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57552272	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58254294	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58604216	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60664964	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62492945	0.84[ASN][1000 genomes]
rs6422353	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67831654	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68132987	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68159296	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6983008	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983030	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983503	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983504	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987223	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987558	0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6990532	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6992896	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6993244	0.97[ASN][1000 genomes]
rs7001457	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7001518	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005133	0.89[CHB][hapmap]
rs7006089	0.85[ASN][1000 genomes]
rs7006526	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006798	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007290	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7012685	0.81[EUR][1000 genomes]
rs7012954	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7012984	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73195758	0.83[EUR][1000 genomes]
rs73195769	0.90[EUR][1000 genomes]
rs73195777	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73195780	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73518370	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7357590	0.93[ASN][1000 genomes]
rs7357601	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7813388	1.00[CHB][hapmap]
rs7824140	0.84[EUR][1000 genomes]
rs7839585	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9644673	0.86[EUR][1000 genomes]
rs9644696	0.88[EUR][1000 genomes]
rs987537	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs987538	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2956243	CTSB	cis	parietal	SCAN

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	chr8:8861800-8865400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:8861800-8865400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:8861800-8865800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:8861800-8866000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:8861800-8866000	Weak transcription	Placenta	Placenta
15	chr8:8861800-8866200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:8861800-8866200	Weak transcription	Primary T cells from cord blood	blood
17	chr8:8861800-8866200	Weak transcription	Brain Germinal Matrix	brain
18	chr8:8861800-8866200	Weak transcription	Fetal Thymus	thymus
19	chr8:8861800-8866600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:8861800-8866600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:8861800-8867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:8861800-8867200	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:8861800-8869000	Weak transcription	Fetal Intestine Small	intestine
24	chr8:8861800-8870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:8861800-8870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:8861800-8870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:8861800-8870400	Weak transcription	Fetal Stomach	stomach
28	chr8:8861800-8870400	Weak transcription	Psoas Muscle	Psoas
29	chr8:8861800-8870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:8861800-8870600	Weak transcription	Thymus	Thymus
31	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
33	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:8861800-8875000	Weak transcription	Gastric	stomach
38	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
39	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
40	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
41	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
42	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
47	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
49	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:8861800-8892200	Weak transcription	Ovary	ovary

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