Variant report

Variant	rs6985007
Chromosome Location	chr8:59561745-59561746
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59554899..59558195-chr8:59561131..59563010,4	K562	blood:
2	chr8:59561564..59565791-chr8:59570091..59573890,6	MCF-7	breast:
3	chr8:59560215..59562162-chr8:59592367..59594127,2	K562	blood:

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12334684	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255834	0.83[EUR][1000 genomes]
rs2634530	0.83[EUR][1000 genomes]
rs2634531	0.81[AMR][1000 genomes]
rs2634534	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2680897	0.82[EUR][1000 genomes]
rs2680899	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2680901	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2946578	0.83[EUR][1000 genomes]
rs4737504	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6985643	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820921	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836960	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901954	0.82[AMR][1000 genomes];0.87[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
2	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
4	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
7	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart
10	chr8:59543400-59570000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:59545600-59564000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:59546200-59563800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:59547200-59570200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:59547600-59564000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:59551000-59570400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:59552600-59570400	Weak transcription	Liver	Liver
17	chr8:59552800-59562200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:59552800-59563000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:59552800-59563200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:59552800-59564000	Weak transcription	Fetal Lung	lung
21	chr8:59554400-59570000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:59554600-59569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:59554800-59562200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:59555200-59562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:59555200-59564800	Weak transcription	NHLF	lung
26	chr8:59555200-59565000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:59555400-59562600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:59555600-59562000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:59556200-59569600	Weak transcription	Ovary	ovary
30	chr8:59556400-59564200	Weak transcription	Right Atrium	heart
31	chr8:59556400-59565000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:59556800-59569800	Weak transcription	HUVEC	blood vessel
33	chr8:59558400-59563000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:59558400-59569600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:59558600-59565000	Weak transcription	Spleen	Spleen
36	chr8:59559400-59562400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:59559600-59561800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:59559600-59563800	ZNF genes & repeats	GM12878-XiMat	blood
39	chr8:59559600-59564600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:59559800-59563000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:59559800-59564200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:59560000-59561800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:59560200-59561800	Weak transcription	NHDF-Ad	bronchial
44	chr8:59560200-59562400	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr8:59560200-59562400	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr8:59560200-59562400	ZNF genes & repeats	Fetal Stomach	stomach
47	chr8:59560200-59563400	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:59560200-59564200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:59560200-59564800	Weak transcription	Pancreas	Pancrea
50	chr8:59560200-59569600	Weak transcription	Muscle Satellite Cultured Cells	--

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