Variant report

Variant	rs7841661
Chromosome Location	chr8:48642878-48642879
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	STAT3	chr8:48642558-48642890	MCF10A-Er-Src	breast:	n/a	n/a
2	RELA	chr8:48642466-48642923	GM12891	blood:	n/a	chr8:48642656-48642665 chr8:48642656-48642665

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48223569..48225954-chr8:48642409..48644484,2	MCF-7	breast:

Variant related genes	Relation type
SPIDR	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10088698	0.83[TSI][hapmap]
rs10092880	1.00[CEU][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes]
rs10095193	0.91[AMR][1000 genomes]
rs10097508	0.82[AMR][1000 genomes]
rs10097783	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs10106778	1.00[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs10107723	1.00[CEU][hapmap]
rs10109158	0.81[AMR][1000 genomes]
rs10958274	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes]
rs12334811	1.00[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs1487438	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes]
rs28542855	0.86[AMR][1000 genomes]
rs28795698	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28809491	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3614	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3829985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4873728	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs58297550	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6995756	0.84[AMR][1000 genomes]
rs7001539	0.92[ASW][hapmap];0.88[LWK][hapmap];0.84[YRI][hapmap]
rs7017622	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72646372	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72646383	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72646396	0.81[EUR][1000 genomes]
rs72646401	0.83[AMR][1000 genomes]
rs729228	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7812323	0.91[AMR][1000 genomes]
rs7813617	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7822320	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7828380	0.84[AMR][1000 genomes]
rs7830350	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7830633	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7830743	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7832898	0.83[AMR][1000 genomes]
rs7838910	1.00[CEU][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs7839161	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7843066	0.89[AMR][1000 genomes]
rs8178095	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs8178238	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9918758	1.00[CEU][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48597200-48647200	Weak transcription	NHEK	skin
2	chr8:48597200-48647400	Weak transcription	HMEC	breast
3	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
5	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
6	chr8:48612000-48647400	Weak transcription	NH-A	brain
7	chr8:48613600-48647200	Weak transcription	A549	lung
8	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:48619200-48648400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:48619600-48647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:48624400-48647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:48624600-48643800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:48626200-48646000	Weak transcription	Colonic Mucosa	Colon
16	chr8:48626600-48646400	Weak transcription	Osteobl	bone
17	chr8:48626600-48646600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:48626600-48648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:48626800-48644400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:48627000-48646200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:48627000-48646800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:48627000-48647000	Weak transcription	Fetal Kidney	kidney
23	chr8:48627000-48647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:48627000-48647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:48630800-48643000	Weak transcription	Psoas Muscle	Psoas
26	chr8:48632600-48643800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:48632600-48644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:48632600-48644000	Weak transcription	HSMM	muscle
29	chr8:48632600-48647200	Weak transcription	Aorta	Aorta
30	chr8:48632800-48646800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:48632800-48648600	Weak transcription	Brain Germinal Matrix	brain
32	chr8:48633000-48644800	Weak transcription	Fetal Brain Male	brain
33	chr8:48633000-48646000	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:48633000-48646400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:48633200-48644000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:48633200-48644200	Weak transcription	HSMMtube	muscle
37	chr8:48633200-48647600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:48635000-48646600	Weak transcription	Brain Angular Gyrus	brain
39	chr8:48635200-48646800	Weak transcription	Brain Substantia Nigra	brain
40	chr8:48635800-48646600	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:48635800-48646800	Weak transcription	Brain Anterior Caudate	brain
42	chr8:48635800-48647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:48636800-48645200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:48636800-48645200	Strong transcription	Spleen	Spleen
45	chr8:48637000-48646400	Weak transcription	Stomach Mucosa	stomach
46	chr8:48637200-48644000	Weak transcription	Right Atrium	heart
47	chr8:48637200-48644400	Weak transcription	Fetal Lung	lung
48	chr8:48637200-48644400	Weak transcription	NHLF	lung
49	chr8:48637200-48646200	Weak transcription	Left Ventricle	heart
50	chr8:48637200-48646200	Weak transcription	NHDF-Ad	bronchial

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