Variant report

Variant	rs11054931
Chromosome Location	chr12:12643587-12643588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12643142..12644757-chr12:12645381..12648713,3	MCF-7	breast:
2	chr12:12642881..12645570-chr12:12690793..12693318,2	MCF-7	breast:
3	chr12:12627656..12629793-chr12:12641466..12644358,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10845555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845564	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845570	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10845571	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10845573	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11054927	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054929	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054930	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054938	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11054950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11054961	1.00[MEX][hapmap];0.90[TSI][hapmap]
rs12309339	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12314295	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12581531	0.89[MEX][hapmap]
rs2417188	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2909054	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2970802	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2970803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4421828	1.00[MEX][hapmap];0.90[TSI][hapmap]
rs4763287	0.96[AMR][1000 genomes]
rs7314806	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7961296	0.86[CHB][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs7978266	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs888201	0.81[CHB][hapmap];0.96[AMR][1000 genomes]
rs888202	0.96[AMR][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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
2	chr12:12621400-12645400	Weak transcription	Small Intestine	intestine
3	chr12:12621600-12646000	Weak transcription	Psoas Muscle	Psoas
4	chr12:12621600-12646200	Weak transcription	Brain Germinal Matrix	brain
5	chr12:12622600-12653800	Weak transcription	Fetal Heart	heart
6	chr12:12626800-12653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:12627800-12646200	Weak transcription	Fetal Brain Male	brain
8	chr12:12628600-12647600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:12628800-12655800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:12630600-12661200	Weak transcription	NHEK	skin
11	chr12:12630800-12655800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:12630800-12658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:12630800-12658400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:12630800-12659600	Weak transcription	Esophagus	oesophagus
15	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
16	chr12:12631000-12645200	Weak transcription	Gastric	stomach
17	chr12:12632800-12658200	Weak transcription	Ovary	ovary
18	chr12:12633000-12658600	Weak transcription	Fetal Kidney	kidney
19	chr12:12633400-12648800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
21	chr12:12634800-12658800	Weak transcription	HSMMtube	muscle
22	chr12:12635000-12647400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:12635600-12644600	Weak transcription	K562	blood
24	chr12:12636000-12645600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:12636000-12653400	Weak transcription	Right Ventricle	heart
26	chr12:12636200-12655800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:12636600-12646200	Weak transcription	Primary B cells from cord blood	blood
28	chr12:12636800-12645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:12636800-12645600	Weak transcription	Spleen	Spleen
30	chr12:12636800-12647400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:12636800-12656800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:12637200-12644600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:12637200-12651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:12637400-12644600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:12638800-12644800	Weak transcription	Aorta	Aorta
36	chr12:12639000-12646600	Genic enhancers	Fetal Intestine Small	intestine
37	chr12:12639200-12647000	Genic enhancers	HepG2	liver
38	chr12:12639400-12648800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:12639400-12652800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:12639600-12648000	Weak transcription	Fetal Brain Female	brain
42	chr12:12639600-12655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:12639600-12659000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:12639800-12644800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:12639800-12647200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:12640000-12645200	Weak transcription	Fetal Stomach	stomach
47	chr12:12640000-12645200	Weak transcription	Left Ventricle	heart
48	chr12:12640000-12646600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:12640000-12648800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:12640000-12648800	Weak transcription	Fetal Lung	lung

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