Variant report

Variant	rs2774941
Chromosome Location	chr1:93315893-93315894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93309838..93311844-chr1:93315017..93316762,2	MCF-7	breast:
2	chr1:93296407..93299057-chr1:93315688..93318097,2	K562	blood:
3	chr1:93314734..93317720-chr1:93541200..93543967,2	K562	blood:
4	chr1:93305940..93309744-chr1:93314396..93316234,5	K562	blood:

Variant related genes	Relation type
ENSG00000207523	Chromatin interaction
ENSG00000207022	Chromatin interaction
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10218567	0.88[CEU][hapmap]
rs10218670	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10493863	0.82[CHD][hapmap]
rs10735782	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10735783	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs10747448	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10747449	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10747450	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10782944	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap]
rs10874731	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10874744	0.82[CHD][hapmap]
rs11164804	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11164808	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11164813	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11164835	0.82[CHD][hapmap]
rs11164845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12066638	0.90[CHD][hapmap]
rs1337109	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1411706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1415294	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1415295	1.00[JPT][hapmap]
rs1538029	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1932966	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2025100	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap]
rs2065916	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2107520	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2107521	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2158446	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2180977	0.89[CEU][hapmap]
rs2244005	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2244496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2244588	0.96[AMR][1000 genomes]
rs2255723	0.90[CHD][hapmap]
rs2263247	0.90[CHD][hapmap]
rs2391177	0.90[CHD][hapmap]
rs2391196	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2391199	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2391200	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2481713	0.90[CHD][hapmap]
rs2774940	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2774943	0.85[ASN][1000 genomes]
rs2774947	0.89[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2811593	0.90[CHD][hapmap]
rs2811599	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2811600	0.90[CHD][hapmap]
rs2811602	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2989014	0.85[ASN][1000 genomes]
rs35054144	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap]
rs3790444	1.00[JPT][hapmap]
rs3790445	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3790446	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4240962	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs4847221	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap]
rs4847247	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4847266	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4847363	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4847370	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6604003	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6604006	1.00[CEU][hapmap]
rs6604010	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6604015	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6604018	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6659942	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap]
rs6661600	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6671421	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6685705	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6696636	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6698233	0.90[CHD][hapmap]
rs6703467	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs72728629	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7416169	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7513815	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7515257	0.82[CHD][hapmap]
rs7516141	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7526582	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7532731	0.83[EUR][1000 genomes]
rs7540407	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7543327	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7543964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs7549844	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7551340	0.84[ASN][1000 genomes]
rs7551880	1.00[CEU][hapmap]
rs927339	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs932637	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9439920	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9439924	0.84[ASN][1000 genomes]
rs945724	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9651257	0.82[CHD][hapmap]
rs976208	1.00[CEU][hapmap];1.00[JPT][hapmap]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93300400-93316000	Strong transcription	Primary B cells from cord blood	blood
2	chr1:93301000-93318400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr1:93303000-93317200	Weak transcription	Right Ventricle	heart
4	chr1:93304400-93349000	Weak transcription	Aorta	Aorta
5	chr1:93305200-93317200	Weak transcription	Fetal Heart	heart
6	chr1:93305800-93316200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:93306000-93316800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:93306000-93317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:93306400-93317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:93306600-93317400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:93306800-93324800	Weak transcription	Pancreas	Pancrea
12	chr1:93307000-93316600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:93307000-93324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:93307200-93320000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:93307800-93316800	Weak transcription	Fetal Lung	lung
16	chr1:93308000-93323400	Weak transcription	Small Intestine	intestine
17	chr1:93308000-93324600	Weak transcription	Psoas Muscle	Psoas
18	chr1:93309200-93317400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:93309400-93324800	Weak transcription	NHDF-Ad	bronchial
20	chr1:93309600-93324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:93309800-93317200	Weak transcription	K562	blood
22	chr1:93309800-93317400	Weak transcription	Ovary	ovary
23	chr1:93309800-93317400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:93309800-93317600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:93309800-93318200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:93309800-93320000	Weak transcription	Spleen	Spleen
27	chr1:93309800-93324200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:93309800-93324400	Weak transcription	A549	lung
29	chr1:93309800-93324400	Weak transcription	Osteobl	bone
30	chr1:93309800-93342400	Weak transcription	NHLF	lung
31	chr1:93310000-93317200	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:93310000-93317200	Weak transcription	Placenta	Placenta
33	chr1:93310000-93317200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:93310000-93318200	Weak transcription	Fetal Brain Male	brain
35	chr1:93310000-93318800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:93310000-93319800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:93310000-93324200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:93310000-93324200	Weak transcription	Brain Substantia Nigra	brain
39	chr1:93310000-93324800	Weak transcription	HSMMtube	muscle
40	chr1:93310200-93317200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:93310200-93317600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:93310200-93318000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:93310200-93319800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:93310200-93320000	Weak transcription	Lung	lung
45	chr1:93310200-93320200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:93310200-93323600	Weak transcription	HepG2	liver
47	chr1:93310200-93324600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:93310400-93316600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:93310400-93317800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:93310400-93318400	Weak transcription	Adipose Nuclei	Adipose

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