Variant report

Variant	rs12619244
Chromosome Location	chr2:99430779-99430780
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99430065..99431888-chr2:99433157..99434960,2	MCF-7	breast:
2	chr2:99425256..99428076-chr2:99429019..99431103,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12232948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12611969	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12612736	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12614153	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12615518	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12616060	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12616866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12617554	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12620812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622254	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12622445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623022	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12623171	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12623172	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12623472	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17021968	0.82[AMR][1000 genomes]
rs2871242	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35979410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56943554	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57480100	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61419135	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61552487	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61604726	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6760422	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958631	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7557719	0.93[AMR][1000 genomes]
rs868921	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.83[ASN][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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99423000-99432200	Weak transcription	Right Atrium	heart
3	chr2:99423400-99439200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:99423600-99439200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:99423800-99434200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:99424000-99432000	Weak transcription	Right Ventricle	heart
7	chr2:99424000-99435600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:99424000-99438400	Weak transcription	Pancreas	Pancrea
9	chr2:99424800-99434800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:99426800-99432000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:99426800-99432200	Weak transcription	Esophagus	oesophagus
12	chr2:99426800-99439200	Weak transcription	Gastric	stomach
13	chr2:99427200-99439000	Weak transcription	Aorta	Aorta
14	chr2:99427400-99431800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:99427400-99442000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:99427600-99434000	Weak transcription	Lung	lung
17	chr2:99427600-99434800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:99427600-99437200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:99427600-99438000	Weak transcription	Fetal Intestine Large	intestine

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