Variant report

Variant	rs11990560
Chromosome Location	chr8:126302216-126302217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126291827..126293740-chr8:126301224..126303367,2	MCF-7	breast:
2	chr8:126298317..126304061-chr8:126440512..126444095,5	MCF-7	breast:
3	chr8:126302028..126304645-chr8:126442784..126445222,2	K562	blood:
4	chr8:126300520..126302327-chr8:126305625..126307763,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10087220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10088674	1.00[EUR][1000 genomes]
rs10093674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097356	1.00[EUR][1000 genomes]
rs10099782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104564	1.00[EUR][1000 genomes]
rs10105848	1.00[EUR][1000 genomes]
rs10106819	1.00[EUR][1000 genomes]
rs10106935	1.00[EUR][1000 genomes]
rs10106950	1.00[EUR][1000 genomes]
rs10107935	1.00[EUR][1000 genomes]
rs10108634	0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109000	1.00[EUR][1000 genomes]
rs10111309	1.00[EUR][1000 genomes]
rs10481079	1.00[EUR][1000 genomes]
rs10481153	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481154	1.00[EUR][1000 genomes]
rs11985468	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988647	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995477	1.00[AMR][1000 genomes]
rs11998130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439074	1.00[EUR][1000 genomes]
rs16900466	1.00[EUR][1000 genomes]
rs28374689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421051	1.00[EUR][1000 genomes]
rs28481333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28516407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609644	1.00[EUR][1000 genomes]
rs28617180	1.00[EUR][1000 genomes]
rs28629877	1.00[EUR][1000 genomes]
rs28676821	1.00[EUR][1000 genomes]
rs28702877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58585963	1.00[EUR][1000 genomes]
rs7015483	1.00[EUR][1000 genomes]
rs73704566	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704568	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704912	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704916	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704922	1.00[EUR][1000 genomes]
rs7826327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844941	1.00[EUR][1000 genomes]
rs9297715	0.84[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
3	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:126295400-126303200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:126295600-126302600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:126298200-126306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:126298400-126303600	Weak transcription	Liver	Liver
8	chr8:126298400-126306600	Weak transcription	Psoas Muscle	Psoas
9	chr8:126298400-126312800	Weak transcription	Gastric	stomach
10	chr8:126299600-126302800	Enhancers	K562	blood
11	chr8:126299600-126304200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:126299800-126303200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:126300200-126303000	Enhancers	Fetal Heart	heart
14	chr8:126300400-126303000	Enhancers	HUVEC	blood vessel
15	chr8:126300600-126302400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:126300600-126304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:126300600-126304400	Enhancers	HepG2	liver
18	chr8:126300800-126302400	Enhancers	HSMM	muscle
19	chr8:126301000-126302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:126301200-126302400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:126301200-126302600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:126301200-126302800	Enhancers	A549	lung
23	chr8:126301200-126303000	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:126301200-126303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:126301200-126303000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:126301200-126303000	Enhancers	Brain Cingulate Gyrus	brain
27	chr8:126301200-126303200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:126301200-126303200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr8:126301200-126303200	Enhancers	Brain Hippocampus Middle	brain
30	chr8:126301200-126303200	Enhancers	Fetal Intestine Small	intestine
31	chr8:126301200-126304400	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:126301400-126302400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:126301400-126302400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:126301400-126302800	Enhancers	Brain Angular Gyrus	brain
35	chr8:126301400-126303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:126301400-126303000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:126301400-126303000	Enhancers	Brain Anterior Caudate	brain
38	chr8:126301400-126303000	Enhancers	Brain Substantia Nigra	brain
39	chr8:126301400-126303000	Enhancers	Thymus	Thymus
40	chr8:126301400-126303400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:126301400-126303400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:126301400-126307000	Enhancers	GM12878-XiMat	blood
43	chr8:126301600-126302800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr8:126301600-126303000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:126301600-126303200	Enhancers	Fetal Intestine Large	intestine
46	chr8:126301800-126302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:126301800-126302400	Weak transcription	Right Atrium	heart
48	chr8:126301800-126302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:126301800-126302800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:126301800-126303000	Weak transcription	Rectal Mucosa Donor 31	rectum

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