Variant report

Variant	rs2242079
Chromosome Location	chr2:173883549-173883550
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	chr2:173882998..173885299-chr2:174084609..174087474,2	K562	blood:
2	chr2:173873426..173877615-chr2:173879611..173885929,8	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1011345	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10497387	1.00[AFR][1000 genomes]
rs11687902	0.95[ASN][1000 genomes]
rs11687990	0.95[ASN][1000 genomes]
rs11885983	1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs12616206	1.00[AFR][1000 genomes]
rs12616563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12624093	0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12693015	0.85[ASN][1000 genomes]
rs12693016	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs12996130	0.83[ASN][1000 genomes]
rs13000260	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs13413796	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs1446981	0.90[CHB][hapmap]
rs16861125	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16861137	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs16861148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16861173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17302307	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs17374295	0.93[ASN][1000 genomes]
rs17707776	1.00[AFR][1000 genomes]
rs1823151	0.87[ASN][1000 genomes]
rs1979186	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs2121483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2258918	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2305461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2592944	0.82[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2602217	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2676521	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs3754753	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs3769225	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769226	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769227	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769233	1.00[CEU][hapmap]
rs3769236	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs3769245	1.00[AFR][1000 genomes]
rs3769246	1.00[AFR][1000 genomes]
rs3769248	1.00[AFR][1000 genomes]
rs3820840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3820841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3820842	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs3820843	0.95[ASN][1000 genomes]
rs3820844	0.95[ASN][1000 genomes]
rs4972393	1.00[CEU][hapmap]
rs4972523	0.95[ASN][1000 genomes]
rs62174630	1.00[AFR][1000 genomes]
rs62174632	1.00[AFR][1000 genomes]
rs62174644	1.00[AFR][1000 genomes]
rs62174645	1.00[AFR][1000 genomes]
rs62175769	1.00[AFR][1000 genomes]
rs66487735	0.95[ASN][1000 genomes]
rs718902	0.82[ASN][1000 genomes]
rs72896070	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72909440	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72909444	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72909446	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7585997	0.84[ASN][1000 genomes]
rs7603772	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173835800-173886800	Weak transcription	Lung	lung
2	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
4	chr2:173861000-173888000	Weak transcription	Fetal Stomach	stomach
5	chr2:173862200-173883600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:173868000-173902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:173868600-173892200	Weak transcription	Fetal Intestine Large	intestine
8	chr2:173871000-173884400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:173871000-173886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:173877200-173901600	Weak transcription	Gastric	stomach
11	chr2:173877800-173887800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:173878200-173886600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:173879400-173888600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:173880800-173891600	Strong transcription	Liver	Liver
15	chr2:173881200-173892400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:173881400-173887200	Weak transcription	Esophagus	oesophagus
18	chr2:173881400-173897200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:173881800-173883800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:173881800-173886400	Weak transcription	Fetal Heart	heart
21	chr2:173882200-173885000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:173882800-173883600	Genic enhancers	Ovary	ovary
23	chr2:173883000-173887000	Weak transcription	Left Ventricle	heart
24	chr2:173883000-173892200	Weak transcription	Right Atrium	heart
25	chr2:173883200-173886800	Weak transcription	Adipose Nuclei	Adipose

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