Variant report

Variant	rs6760422
Chromosome Location	chr2:99444043-99444044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99437609..99439814-chr2:99443387..99445956,2	MCF-7	breast:
2	chr2:99443633..99446031-chr2:99448768..99450507,2	K562	blood:

Variant related genes	Relation type
ENSG00000196872	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12611969	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12612736	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12614153	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12615518	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12616060	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12616866	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12617554	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12619244	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620812	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622254	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12622445	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623022	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12623171	0.86[ASN][1000 genomes]
rs12623172	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12623472	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2871242	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35979410	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56943554	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57480100	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61419135	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61552487	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61604726	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72958631	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7557719	0.90[AMR][1000 genomes]
rs868921	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99435600-99444600	Weak transcription	Hela-S3	cervix
2	chr2:99438800-99448600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:99439800-99444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:99439800-99446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:99439800-99448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:99440000-99447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:99440200-99449800	Weak transcription	Colonic Mucosa	Colon
9	chr2:99440400-99444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:99440600-99444200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:99440600-99445600	Weak transcription	Right Atrium	heart
14	chr2:99440600-99445600	Weak transcription	Spleen	Spleen
15	chr2:99440600-99449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:99440600-99449600	Weak transcription	HMEC	breast
17	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:99441000-99445200	Weak transcription	Thymus	Thymus
19	chr2:99441000-99449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:99441200-99444200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:99441400-99445200	Weak transcription	HUVEC	blood vessel
22	chr2:99441600-99444200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:99441600-99444200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:99441600-99444200	Weak transcription	Fetal Thymus	thymus
25	chr2:99441800-99444200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:99441800-99444200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:99441800-99444200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:99441800-99444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:99441800-99445600	Weak transcription	Lung	lung
30	chr2:99441800-99446600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:99441800-99449000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:99442000-99444400	Strong transcription	Fetal Intestine Small	intestine
33	chr2:99442200-99444400	Weak transcription	Primary T cells from cord blood	blood
34	chr2:99442200-99444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:99442200-99444600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:99442200-99445200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:99442400-99444200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:99442400-99445600	Weak transcription	Left Ventricle	heart
39	chr2:99442600-99449800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:99442800-99444800	Weak transcription	Primary B cells from cord blood	blood
41	chr2:99442800-99444800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:99442800-99445000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:99443000-99445600	Weak transcription	Stomach Mucosa	stomach
44	chr2:99443000-99448600	Weak transcription	Brain Angular Gyrus	brain
45	chr2:99443000-99448600	Weak transcription	Right Ventricle	heart
46	chr2:99443200-99444200	Weak transcription	HepG2	liver
47	chr2:99443200-99444800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:99443600-99450400	Weak transcription	Pancreas	Pancrea
49	chr2:99443800-99447800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:99443800-99448600	Weak transcription	Esophagus	oesophagus

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