Variant report

Variant	rs56187906
Chromosome Location	chr8:27402253-27402254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:27374217..27376908-chr8:27401019..27403796,2	K562	blood:
2	chr8:27395292..27397971-chr8:27398871..27403282,5	K562	blood:
3	chr8:27395090..27397790-chr8:27400784..27403120,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs57442348	0.84[AFR][1000 genomes]
rs59338093	0.93[AFR][1000 genomes]
rs59365325	0.84[AFR][1000 genomes]
rs59683646	0.93[AFR][1000 genomes]
rs60257378	0.93[AFR][1000 genomes]
rs60319016	0.80[AFR][1000 genomes]
rs60709011	0.93[AFR][1000 genomes]
rs61586133	0.84[AFR][1000 genomes]
rs6558001	0.90[AFR][1000 genomes]
rs6995058	0.86[AFR][1000 genomes]
rs7006736	0.90[AFR][1000 genomes]
rs7017595	0.87[AFR][1000 genomes]
rs72475804	0.86[AFR][1000 genomes]
rs72475805	0.80[AFR][1000 genomes]
rs72475823	0.84[AFR][1000 genomes]
rs72475825	0.84[AFR][1000 genomes]
rs72475857	0.93[AFR][1000 genomes]
rs72475878	0.93[AFR][1000 genomes]
rs72475879	0.93[AFR][1000 genomes]
rs72475898	0.93[AFR][1000 genomes]
rs72477587	1.00[AFR][1000 genomes]
rs72477588	1.00[AFR][1000 genomes]
rs72478904	1.00[AFR][1000 genomes]
rs73679204	0.90[AFR][1000 genomes]
rs73679208	0.90[AFR][1000 genomes]
rs7819348	0.93[AFR][1000 genomes]
rs7838218	0.84[AFR][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	nsv1020582	chr8:27309768-27406844	Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv831275	chr8:27328290-27481605	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv890696	chr8:27377162-27441010	Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465627	chr8:27383901-27450535	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv610866	chr8:27383901-27450535	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv890697	chr8:27385450-27405207	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv437612	chr8:27402132-27405809	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27359400-27402400	Weak transcription	Fetal Brain Male	brain
2	chr8:27362200-27402800	Weak transcription	Fetal Heart	heart
3	chr8:27362800-27405200	Weak transcription	Psoas Muscle	Psoas
4	chr8:27368200-27413400	Weak transcription	Fetal Kidney	kidney
5	chr8:27372800-27413200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:27373600-27406800	Strong transcription	Fetal Intestine Large	intestine
7	chr8:27374200-27403000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:27384200-27404600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:27384200-27404800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:27387800-27406600	Strong transcription	Liver	Liver
11	chr8:27388400-27404000	Strong transcription	Fetal Stomach	stomach
12	chr8:27388600-27403200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:27388600-27404000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:27388600-27406400	Strong transcription	Primary T cells from cord blood	blood
15	chr8:27388800-27402800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr8:27388800-27404000	Strong transcription	Fetal Thymus	thymus
17	chr8:27389000-27402800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr8:27390600-27405200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:27391000-27402800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:27391200-27402600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr8:27391400-27402800	Strong transcription	Ovary	ovary
22	chr8:27394600-27406200	Strong transcription	Thymus	Thymus
23	chr8:27394800-27405800	Weak transcription	Small Intestine	intestine
24	chr8:27395600-27406400	Strong transcription	Fetal Intestine Small	intestine
25	chr8:27395800-27402600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:27396000-27404200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:27396000-27404600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:27396200-27402600	Strong transcription	HepG2	liver
29	chr8:27396600-27405000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:27397200-27412800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:27397400-27403400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:27397600-27402400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:27397600-27404600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:27397600-27405000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:27397600-27405400	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:27399400-27404600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:27400000-27404600	Weak transcription	Placenta	Placenta
38	chr8:27400200-27405000	Weak transcription	Fetal Lung	lung
39	chr8:27400600-27402800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr8:27400800-27402400	Strong transcription	Adipose Nuclei	Adipose
41	chr8:27401000-27403000	Strong transcription	Esophagus	oesophagus
42	chr8:27401000-27405000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:27401000-27405200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:27401200-27402400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr8:27401200-27402600	Strong transcription	Right Ventricle	heart
46	chr8:27401200-27404600	Weak transcription	Brain Substantia Nigra	brain
47	chr8:27401400-27402400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:27401400-27402400	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:27401600-27402400	Weak transcription	Gastric	stomach
50	chr8:27401600-27405400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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