Variant report

Variant	rs2084076
Chromosome Location	chr8:8871001-8871002
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	RCOR1	chr8:8870908-8871341	K562	blood:	n/a	n/a
2	UBTF	chr8:8870867-8871064	K562	blood:	n/a	n/a
3	GATA3	chr8:8870717-8871245	T-47D	breast:	n/a	chr8:8871082-8871090
4	HDAC2	chr8:8870787-8871267	MCF-7	breast:	n/a	n/a
5	TCF7L2	chr8:8870801-8871191	MCF-7	breast:	n/a	n/a
6	GATA3	chr8:8870715-8871439	MCF-7	breast:	n/a	chr8:8871082-8871090
7	NR2F2	chr8:8870851-8871337	K562	blood:	n/a	n/a
8	JUND	chr8:8870852-8871259	K562	blood:	n/a	n/a
9	EP300	chr8:8870860-8871328	K562	blood:	n/a	n/a
10	GATA3	chr8:8870900-8871233	MCF-7	breast:	n/a	chr8:8871082-8871090
11	RAD21	chr8:8870864-8871371	SK-N-SH_RA	brain:	n/a	n/a
12	GATA3	chr8:8870712-8871416	SK-N-SH	brain:	n/a	chr8:8871082-8871090
13	GATA3	chr8:8870851-8871242	MCF-7	breast:	n/a	chr8:8871082-8871090
14	EP300	chr8:8870763-8871634	SK-N-SH_RA	brain:	n/a	n/a
15	ESR1	chr8:8870837-8871118	T-47D	breast:	n/a	n/a
16	MYC	chr8:8870901-8871228	K562	blood:	n/a	n/a
17	POLR2A	chr8:8863320-8872107	K562	blood:	n/a	n/a
18	GATA3	chr8:8870837-8871238	T-47D	breast:	n/a	chr8:8871082-8871090
19	GATA3	chr8:8870779-8871763	SK-N-SH	brain:	n/a	chr8:8871082-8871090
20	NR2F2	chr8:8870758-8871452	MCF-7	breast:	n/a	n/a
21	SIN3AK20	chr8:8870679-8871379	MCF-7	breast:	n/a	n/a
22	EP300	chr8:8870708-8871271	MCF-7	breast:	n/a	n/a
23	GATA3	chr8:8870623-8871498	MCF-7	breast:	n/a	chr8:8871082-8871090
24	EP300	chr8:8870858-8871599	SK-N-SH_RA	brain:	n/a	n/a
25	ZNF384	chr8:8870824-8871024	K562	blood:	n/a	n/a
26	ESR1	chr8:8870826-8871106	T-47D	breast:	n/a	n/a
27	ZNF217	chr8:8870770-8871236	MCF-7	breast:	n/a	n/a
28	GATA2	chr8:8870834-8871854	HUVEC	blood vessel:	n/a	n/a
29	RCOR1	chr8:8870832-8871487	K562	blood:	n/a	n/a
30	MAZ	chr8:8870867-8871220	K562	blood:	n/a	n/a
31	SP1	chr8:8870792-8872981	HCT-116	colon:	n/a	n/a
32	TBL1XR1	chr8:8870937-8871284	K562	blood:	n/a	n/a
33	FOXA1	chr8:8870892-8871073	T-47D	breast:	n/a	n/a
34	SPI1	chr8:8870875-8871090	K562	blood:	n/a	n/a
35	TEAD4	chr8:8870783-8871356	K562	blood:	n/a	n/a
36	GATA2	chr8:8870880-8871330	SH-SY5Y	brain:	n/a	n/a
37	NR2F2	chr8:8870731-8871334	MCF-7	breast:	n/a	n/a
38	GATA3	chr8:8870950-8871218	SH-SY5Y	brain:	n/a	chr8:8871082-8871090

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8859811..8861702-chr8:8869833..8872508,3	MCF-7	breast:
2	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: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1036081	0.88[EUR][1000 genomes]
rs11782281	0.94[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12114954	0.82[YRI][hapmap]
rs12677456	0.82[EUR][1000 genomes]
rs12681075	1.00[CEU][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes]
rs12682403	0.87[EUR][1000 genomes]
rs13257208	0.82[EUR][1000 genomes]
rs17155071	1.00[CEU][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes]
rs2044388	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.95[EUR][1000 genomes]
rs2082210	0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2288669	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288670	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288671	0.92[JPT][hapmap]
rs2288672	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2409119	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes]
rs28693452	0.88[EUR][1000 genomes]
rs2915248	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2915251	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs2915252	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes]
rs2915253	0.97[EUR][1000 genomes]
rs2921374	0.80[EUR][1000 genomes]
rs2921379	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.97[EUR][1000 genomes]
rs2953800	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes]
rs2953801	0.90[EUR][1000 genomes]
rs2953808	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2953809	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2953810	0.82[ASN][1000 genomes]
rs2956242	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs2956243	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs2956244	0.90[JPT][hapmap]
rs2979246	0.82[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2979249	0.82[EUR][1000 genomes]
rs2979250	0.82[EUR][1000 genomes]
rs2979256	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2979260	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]
rs2979261	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2979262	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2979263	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes]
rs2979264	0.98[EUR][1000 genomes]
rs2979265	0.93[JPT][hapmap]
rs2979266	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes]
rs35076339	0.90[EUR][1000 genomes]
rs4081881	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes]
rs4433148	0.87[EUR][1000 genomes]
rs4551361	0.87[EUR][1000 genomes]
rs4601317	0.87[EUR][1000 genomes]
rs4636210	0.87[EUR][1000 genomes]
rs4841083	0.84[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs4841085	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55654856	0.88[EUR][1000 genomes]
rs57552272	0.88[EUR][1000 genomes]
rs58254294	0.88[EUR][1000 genomes]
rs58604216	0.88[EUR][1000 genomes]
rs60664964	0.88[EUR][1000 genomes]
rs6422353	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs67831654	0.90[EUR][1000 genomes]
rs68132987	0.88[EUR][1000 genomes]
rs68159296	0.83[EUR][1000 genomes]
rs6983008	0.88[EUR][1000 genomes]
rs6983030	0.88[EUR][1000 genomes]
rs6983503	0.88[EUR][1000 genomes]
rs6983504	0.88[EUR][1000 genomes]
rs6987223	0.88[EUR][1000 genomes]
rs6987558	0.92[JPT][hapmap]
rs6990532	0.87[EUR][1000 genomes]
rs6992896	0.88[EUR][1000 genomes]
rs7001457	0.83[EUR][1000 genomes]
rs7001518	0.85[EUR][1000 genomes]
rs7006526	0.88[EUR][1000 genomes]
rs7006798	0.87[EUR][1000 genomes]
rs7007290	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7012685	0.82[EUR][1000 genomes]
rs7012954	0.87[EUR][1000 genomes]
rs7012984	0.88[EUR][1000 genomes]
rs73195758	0.83[EUR][1000 genomes]
rs73195769	0.90[EUR][1000 genomes]
rs73195777	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73195780	0.88[EUR][1000 genomes]
rs73518370	0.88[EUR][1000 genomes]
rs7357601	0.93[EUR][1000 genomes]
rs7813388	0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs7824140	0.88[EUR][1000 genomes]
rs7839585	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs9644673	0.87[EUR][1000 genomes]
rs9644696	0.88[EUR][1000 genomes]
rs987537	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs987538	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][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:124 , 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	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:8861800-8875000	Weak transcription	Gastric	stomach
11	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
12	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
13	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
14	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
15	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
20	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
22	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:8861800-8892200	Weak transcription	Ovary	ovary
24	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
25	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
27	chr8:8862400-8874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:8864600-8871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:8865000-8871600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:8865400-8872000	Strong transcription	Dnd41	blood
31	chr8:8865400-8878800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr8:8865400-8886000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:8865800-8879600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:8866200-8871600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr8:8866800-8872800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:8867000-8874200	Weak transcription	Brain Germinal Matrix	brain
37	chr8:8867200-8872000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:8867800-8874800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:8868400-8871200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:8868600-8875000	Weak transcription	Brain Substantia Nigra	brain
41	chr8:8868800-8871200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:8868800-8872000	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:8868800-8872600	Enhancers	NHLF	lung
44	chr8:8868800-8873000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:8868800-8877000	Strong transcription	Fetal Thymus	thymus
46	chr8:8869000-8871200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:8869000-8871200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:8869000-8871200	Strong transcription	Brain Hippocampus Middle	brain
49	chr8:8869000-8871400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:8869000-8871800	Strong transcription	Rectal Mucosa Donor 29	rectum

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