Variant report

Variant	rs7010806
Chromosome Location	chr8:90772223-90772224
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	EP300	chr8:90771903-90772729	SK-N-SH	brain:	n/a	chr8:90772427-90772437
2	CEBPB	chr8:90772171-90772664	IMR90	lung:	n/a	chr8:90772465-90772478
3	GATA3	chr8:90771474-90772389	MCF-7	breast:	n/a	chr8:90772298-90772307
4	JUND	chr8:90771219-90772433	K562	blood:	n/a	chr8:90771657-90771666 chr8:90772350-90772361
5	JUN	chr8:90771040-90772820	K562	blood:	n/a	chr8:90771657-90771666 chr8:90772350-90772361
6	BRCA1	chr8:90772048-90772606	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr8:90771171-90772444	K562	blood:	n/a	n/a
8	SMC3	chr8:90772125-90772324	GM12878	blood:	n/a	n/a
9	TEAD4	chr8:90771967-90772776	SK-N-SH	brain:	n/a	n/a
10	MAX	chr8:90772010-90772494	SK-N-SH	brain:	n/a	n/a
11	MAX	chr8:90772080-90772621	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr8:90771993-90772747	SK-N-SH	brain:	n/a	n/a
13	FOSL2	chr8:90772183-90772740	SK-N-SH	brain:	n/a	chr8:90772350-90772361
14	FOSL2	chr8:90771960-90772877	SK-N-SH	brain:	n/a	chr8:90772350-90772361
15	YY1	chr8:90772067-90772641	SK-N-SH	brain:	n/a	n/a
16	EP300	chr8:90771900-90772865	SK-N-SH	brain:	n/a	chr8:90772427-90772437
17	FOS	chr8:90772187-90772731	MCF10A-Er-Src	breast:	n/a	chr8:90772350-90772361
18	GATA2	chr8:90771454-90772510	HUVEC	blood vessel:	n/a	chr8:90772298-90772307
19	TAF1	chr8:90772105-90772595	SK-N-SH	brain:	n/a	n/a
20	TEAD4	chr8:90771451-90772799	SK-N-SH	brain:	n/a	n/a
21	FOS	chr8:90772176-90772722	MCF10A-Er-Src	breast:	n/a	chr8:90772350-90772361
22	POLR2A	chr8:90771197-90772572	IMR90	lung:	n/a	n/a
23	TCF12	chr8:90771984-90772903	SK-N-SH	brain:	n/a	n/a
24	SIN3AK20	chr8:90769006-90772678	MCF-7	breast:	n/a	n/a
25	RFX5	chr8:90772197-90772615	Hela-S3	cervix:	n/a	n/a
26	GATA3	chr8:90771351-90772822	SK-N-SH	brain:	n/a	chr8:90772298-90772307
27	NFIC	chr8:90771369-90772734	SK-N-SH	brain:	n/a	n/a
28	CUX1	chr8:90771324-90772252	K562	blood:	n/a	n/a
29	RCOR1	chr8:90772166-90772486	Hela-S3	cervix:	n/a	n/a
30	PBX3	chr8:90771406-90772817	SK-N-SH	brain:	n/a	chr8:90771658-90771667
31	POLR2A	chr8:90772183-90772225	ProgFib	skin:	n/a	n/a
32	JUND	chr8:90771322-90772871	SK-N-SH	brain:	n/a	chr8:90771657-90771666 chr8:90772570-90772581 chr8:90772350-90772361
33	EP300	chr8:90772115-90772417	SK-N-SH_RA	brain:	n/a	n/a
34	KAP1	chr8:90771680-90772323	K562	blood:	n/a	n/a
35	JUN	chr8:90772170-90772635	HUVEC	blood vessel:	n/a	chr8:90772350-90772361
36	KAP1	chr8:90771286-90772580	U2OS	brain:	n/a	chr8:90772359-90772367
37	GATA3	chr8:90772051-90772476	T-47D	breast:	n/a	chr8:90772298-90772307
38	RXRA	chr8:90771991-90772726	SK-N-SH	brain:	n/a	n/a
39	JUND	chr8:90771966-90772856	SK-N-SH	brain:	n/a	chr8:90772570-90772581 chr8:90772350-90772361
40	GATA3	chr8:90771237-90772945	SK-N-SH	brain:	n/a	chr8:90772298-90772307
41	POLR2A	chr8:90772089-90772654	SK-N-SH	brain:	n/a	n/a
42	FOXM1	chr8:90772060-90772710	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr8:90771335-90772665	MCF-7	breast:	n/a	chr8:90772298-90772307
44	CEBPB	chr8:90772142-90772666	Hela-S3	cervix:	n/a	chr8:90772465-90772478
45	GATA3	chr8:90771259-90772592	MCF-7	breast:	n/a	chr8:90772298-90772307
46	TCF12	chr8:90771311-90772902	SK-N-SH	brain:	n/a	n/a
47	EP300	chr8:90772136-90772692	SK-N-SH_RA	brain:	n/a	chr8:90772427-90772437

No.	Distal block	Cell Line	Cell type
1	chr8:90770120..90773332-chr8:90778069..90782721,6	K562	blood:
2	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
3	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
4	chr8:90770153..90772840-chr8:91007393..91009503,2	K562	blood:
5	chr6:27099899..27102052-chr8:90770515..90773024,2	MCF-7	breast:
6	chr8:90731255..90734229-chr8:90770926..90773381,2	MCF-7	breast:
7	chr8:90735927..90738609-chr8:90772144..90774444,2	K562	blood:
8	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
9	chr8:90770081..90772255-chr8:90988919..90991592,2	MCF-7	breast:
10	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
11	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
12	chr8:90770923..90772478-chr8:91013915..91015881,2	K562	blood:
13	chr8:90772003..90774182-chr8:90878976..90880598,2	K562	blood:
14	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000251136	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10504882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10504883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16900480	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900581	0.90[ASN][1000 genomes]
rs16900589	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16900711	0.90[ASN][1000 genomes]
rs2293807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs383592	0.95[YRI][hapmap]
rs39499	0.87[YRI][hapmap]
rs40544	0.95[YRI][hapmap]
rs42490	0.95[YRI][hapmap]
rs431264	0.89[YRI][hapmap]
rs55697113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55702923	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55881928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55914077	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55945927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56118532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56275901	0.97[ASN][1000 genomes]
rs56302550	1.00[ASN][1000 genomes]
rs56716125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56793332	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57701764	1.00[ASN][1000 genomes]
rs58330617	1.00[ASN][1000 genomes]
rs58972679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59312383	1.00[ASN][1000 genomes]
rs59581432	1.00[ASN][1000 genomes]
rs59678171	1.00[ASN][1000 genomes]
rs59924471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59941801	1.00[ASN][1000 genomes]
rs59988473	1.00[ASN][1000 genomes]
rs60183011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60327583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60651842	1.00[ASN][1000 genomes]
rs60691618	1.00[ASN][1000 genomes]
rs60772522	1.00[ASN][1000 genomes]
rs60959735	1.00[ASN][1000 genomes]
rs61017576	0.90[ASN][1000 genomes]
rs61044501	0.97[ASN][1000 genomes]
rs61258433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61450435	1.00[ASN][1000 genomes]
rs61662505	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73694459	0.97[ASN][1000 genomes]
rs73694461	0.97[ASN][1000 genomes]
rs73694462	0.97[ASN][1000 genomes]
rs73694463	0.95[ASN][1000 genomes]
rs73694485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694487	0.90[ASN][1000 genomes]
rs73694488	0.90[ASN][1000 genomes]
rs73694490	0.90[ASN][1000 genomes]
rs73694492	0.90[ASN][1000 genomes]
rs73694493	0.90[ASN][1000 genomes]
rs73694496	0.85[ASN][1000 genomes]
rs7817339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7829418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7830914	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7839470	0.97[ASN][1000 genomes]
rs7839478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9721216	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90766200-90772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:90768800-90772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:90769000-90772400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:90770400-90772400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr8:90770400-90772600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:90770600-90772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:90770800-90772400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr8:90770800-90772400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:90770800-90773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:90771000-90772400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:90771000-90772400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:90771000-90772400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:90771000-90772600	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:90771000-90772800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:90771000-90773600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:90771000-90774200	Weak transcription	Gastric	stomach
17	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:90771200-90772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:90771200-90772400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:90771200-90772400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:90771200-90772600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:90771200-90772600	Flanking Active TSS	Hela-S3	cervix
23	chr8:90771200-90772600	Flanking Active TSS	NH-A	brain
24	chr8:90771400-90772400	Flanking Active TSS	HMEC	breast
25	chr8:90771400-90772400	Flanking Active TSS	K562	blood
26	chr8:90771400-90773000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:90771600-90772400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:90771600-90772400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr8:90771600-90772400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr8:90771600-90772400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr8:90771600-90772400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr8:90771600-90772400	Flanking Active TSS	NHLF	lung
33	chr8:90771600-90772600	Flanking Active TSS	GM12878-XiMat	blood
34	chr8:90771600-90772600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr8:90771600-90773000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr8:90771600-90773000	Flanking Active TSS	Osteobl	bone
37	chr8:90771600-90774200	Enhancers	Fetal Heart	heart
38	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:90771800-90772400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr8:90771800-90772400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:90771800-90772400	Enhancers	Primary B cells from cord blood	blood
42	chr8:90771800-90772400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:90771800-90772400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:90771800-90772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:90771800-90772600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:90771800-90772600	Enhancers	Left Ventricle	heart
47	chr8:90771800-90772600	Flanking Active TSS	A549	lung
48	chr8:90771800-90773000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:90771800-90773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:90771800-90773800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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