Variant report

Variant	rs2602792
Chromosome Location	chr2:30867800-30867801
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	chr2:30866947..30869047-chr2:30869143..30871287,2	MCF-7	breast:
2	chr2:30867045..30872289-chr2:30881194..30886841,8	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10175399	0.86[CEU][hapmap]
rs10183928	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10865520	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1096109	0.88[EUR][1000 genomes]
rs11127278	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12053428	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12468064	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1252625	0.86[CEU][hapmap]
rs1252631	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1252640	0.88[EUR][1000 genomes]
rs1252646	0.92[CEU][hapmap]
rs1252651	1.00[CEU][hapmap]
rs12999917	0.93[ASN][1000 genomes]
rs13024015	0.93[ASN][1000 genomes]
rs1447186	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1447187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470533	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470534	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470536	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525062	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1869423	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1869424	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1869429	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975555	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2123753	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2177698	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2266377	0.82[EUR][1000 genomes]
rs2593440	0.92[EUR][1000 genomes]
rs2593442	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593443	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593448	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593452	0.91[EUR][1000 genomes]
rs2593455	0.89[EUR][1000 genomes]
rs2593458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593459	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2593460	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593464	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593465	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593466	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593474	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602767	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602780	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602782	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602783	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602789	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602790	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602791	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602798	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602799	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602806	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602807	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602808	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609917	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609924	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609925	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609926	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609943	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609945	0.92[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2609950	0.96[EUR][1000 genomes]
rs2609952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609955	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609956	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609958	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862977	0.88[EUR][1000 genomes]
rs4952147	0.92[CEU][hapmap]
rs62142163	0.93[ASN][1000 genomes]
rs6731031	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6740440	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6759011	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7566983	0.88[EUR][1000 genomes]
rs7572318	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7583211	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7591110	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7592355	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7605994	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7606200	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829563	1.00[CEU][hapmap]
rs829564	1.00[CEU][hapmap]
rs829565	1.00[CEU][hapmap]
rs829575	0.92[CEU][hapmap]
rs829616	0.89[EUR][1000 genomes]
rs829617	0.89[EUR][1000 genomes]
rs829618	0.92[CEU][hapmap]
rs829622	0.92[CEU][hapmap]
rs829629	0.84[EUR][1000 genomes]
rs829630	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs829631	0.86[CEU][hapmap]
rs829632	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs829634	0.86[CEU][hapmap]
rs829635	0.89[EUR][1000 genomes]
rs829637	0.88[EUR][1000 genomes]
rs829641	0.92[CEU][hapmap]
rs829642	0.85[CEU][hapmap]
rs829646	0.85[CEU][hapmap]
rs829653	1.00[CEU][hapmap]
rs829654	0.86[CEU][hapmap]
rs829659	0.85[CEU][hapmap]
rs829660	0.87[EUR][1000 genomes]
rs829664	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs829669	0.86[CEU][hapmap]
rs829673	0.85[CEU][hapmap]
rs829677	0.86[CEU][hapmap]
rs829679	0.86[CEU][hapmap]
rs829681	1.00[CEU][hapmap]
rs829682	0.91[CEU][hapmap]
rs829684	1.00[CEU][hapmap]
rs844194	0.86[CEU][hapmap]
rs860487	1.00[CEU][hapmap]
rs866680	1.00[CEU][hapmap]
rs895662	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895665	0.95[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv581266	chr2:30864789-30874229	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv215004	chr2:30865289-30869535	Weak transcription Enhancers Strong transcription	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
2	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
3	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:30850400-30869200	Weak transcription	Gastric	stomach
7	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
9	chr2:30857000-30869000	Weak transcription	Hela-S3	cervix
10	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
11	chr2:30860400-30878200	Weak transcription	NHLF	lung
12	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
13	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:30862000-30868600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:30862400-30868400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:30863200-30871800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:30863600-30882200	Weak transcription	Ovary	ovary
18	chr2:30863800-30871800	Weak transcription	HSMMtube	muscle
19	chr2:30864000-30868600	Weak transcription	Lung	lung
20	chr2:30864000-30870800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:30864000-30872000	Weak transcription	Right Ventricle	heart
22	chr2:30864000-30874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:30864200-30868000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:30864200-30868200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:30864200-30868800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:30864200-30869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:30864200-30871000	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:30864200-30871800	Weak transcription	Left Ventricle	heart
29	chr2:30864200-30872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:30864400-30869400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:30864600-30869200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:30864800-30875200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:30864800-30876600	Weak transcription	Osteobl	bone
34	chr2:30865000-30871800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:30865000-30872200	Weak transcription	Aorta	Aorta
36	chr2:30865000-30875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:30865200-30868000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:30865200-30868200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:30865200-30868800	Weak transcription	Dnd41	blood
40	chr2:30865200-30869000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:30865200-30872000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:30865200-30872200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:30865200-30873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:30865200-30878200	Weak transcription	A549	lung
46	chr2:30865400-30869200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:30865600-30868600	Weak transcription	Fetal Lung	lung
48	chr2:30865600-30869000	Weak transcription	Primary B cells from cord blood	blood
49	chr2:30865600-30872000	Weak transcription	Fetal Intestine Small	intestine
50	chr2:30866600-30869000	Enhancers	Skeletal Muscle Male	skeletal muscle

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