Variant report

Variant	rs10087517
Chromosome Location	chr8:48639976-48639977
allele	C/T
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	CTCF	chr8:48639860-48640010	GM12869	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48635174..48641893-chr8:48648550..48652485,8	MCF-7	breast:

Variant related genes	Relation type
SPIDR	TF binding region
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10107723	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11989844	1.00[EUR][1000 genomes]
rs15955	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279431	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8178050	1.00[CHB][hapmap];0.85[JPT][hapmap]

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:112 , 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	chr8:48612400-48640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:48613600-48647200	Weak transcription	A549	lung
9	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:48619200-48648400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:48619600-48647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:48624200-48641600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:48624400-48647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:48624600-48643800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:48626200-48646000	Weak transcription	Colonic Mucosa	Colon
18	chr8:48626600-48646400	Weak transcription	Osteobl	bone
19	chr8:48626600-48646600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:48626600-48648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:48626800-48644400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:48627000-48641200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:48627000-48646200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:48627000-48646800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:48627000-48647000	Weak transcription	Fetal Kidney	kidney
26	chr8:48627000-48647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:48627000-48647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:48627400-48641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:48627400-48641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:48627800-48642800	Weak transcription	GM12878-XiMat	blood
31	chr8:48629800-48641400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:48630200-48641200	Weak transcription	Right Ventricle	heart
33	chr8:48630800-48643000	Weak transcription	Psoas Muscle	Psoas
34	chr8:48632600-48643800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:48632600-48644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:48632600-48644000	Weak transcription	HSMM	muscle
37	chr8:48632600-48647200	Weak transcription	Aorta	Aorta
38	chr8:48632800-48646800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:48632800-48648600	Weak transcription	Brain Germinal Matrix	brain
40	chr8:48633000-48640800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:48633000-48641400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:48633000-48644800	Weak transcription	Fetal Brain Male	brain
43	chr8:48633000-48646000	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:48633000-48646400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:48633200-48640800	Weak transcription	Fetal Brain Female	brain
46	chr8:48633200-48644000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:48633200-48644200	Weak transcription	HSMMtube	muscle
48	chr8:48633200-48647600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:48634800-48642800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:48635000-48646600	Weak transcription	Brain Angular Gyrus	brain

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