Variant report

Variant	rs771266
Chromosome Location	chr2:7130931-7130932
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	chr2:7130628..7133079-chr2:7138526..7140206,2	MCF-7	breast:
2	chr2:7071092..7072701-chr2:7129085..7131806,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10495548	0.83[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10495549	0.83[CEU][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10929458	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11898648	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465410	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13393491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13398488	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13399190	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13408347	0.86[ASN][1000 genomes]
rs13418719	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13422407	0.95[ASN][1000 genomes]
rs1797554	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292931	0.83[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28768765	0.92[ASN][1000 genomes]
rs3755509	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4669124	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4669126	0.82[EUR][1000 genomes]
rs6741819	0.83[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs700943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72781779	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs771253	0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[ASN][1000 genomes]
rs771256	0.83[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs771257	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs771259	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs771265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs932196	0.87[CEU][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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs771266	ODC1	cis	parietal	SCAN
rs771266	RNF144A	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
2	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
5	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
6	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:7123600-7133400	Weak transcription	Fetal Stomach	stomach
8	chr2:7123800-7131000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:7123800-7132400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:7124000-7132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:7124000-7132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:7126200-7132800	Strong transcription	Dnd41	blood
14	chr2:7126600-7131000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:7126800-7131000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:7126800-7131200	Weak transcription	K562	blood
18	chr2:7126800-7132400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:7126800-7133200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:7127400-7132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:7127400-7132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:7127400-7133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:7127600-7132200	Weak transcription	Fetal Brain Male	brain
27	chr2:7127600-7134000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:7127600-7138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:7127600-7143600	Weak transcription	HepG2	liver
30	chr2:7127800-7131200	Weak transcription	Fetal Lung	lung
31	chr2:7127800-7131200	Weak transcription	Spleen	Spleen
32	chr2:7127800-7131400	Weak transcription	Ovary	ovary
33	chr2:7127800-7132000	Weak transcription	Psoas Muscle	Psoas
34	chr2:7127800-7132200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:7127800-7132400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:7128000-7131200	Weak transcription	Adipose Nuclei	Adipose
37	chr2:7128000-7132000	Weak transcription	Fetal Heart	heart
38	chr2:7128000-7132000	Weak transcription	Right Atrium	heart
39	chr2:7128000-7132000	Weak transcription	Right Ventricle	heart
40	chr2:7128000-7132000	Weak transcription	HUVEC	blood vessel
41	chr2:7128000-7132200	Weak transcription	Left Ventricle	heart
42	chr2:7128000-7132200	Weak transcription	Lung	lung
43	chr2:7128400-7132400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:7128400-7132600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:7129000-7132600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:7129200-7131800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:7129400-7131800	Strong transcription	Fetal Thymus	thymus
48	chr2:7129600-7131400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:7129600-7131400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:7129600-7131600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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