Variant report

Variant	rs12140433
Chromosome Location	chr1:172322244-172322245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172315289..172319406-chr1:172322030..172325808,4	MCF-7	breast:
2	chr1:172322016..172323683-chr1:172323746..172325652,2	MCF-7	breast:
3	chr1:172319507..172323495-chr1:172324646..172327530,4	MCF-7	breast:
4	chr1:172305170..172307799-chr1:172321376..172323141,2	MCF-7	breast:
5	chr1:172318035..172320026-chr1:172322027..172324198,2	K562	blood:

Variant related genes	Relation type
ENSG00000252354	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10489284	0.83[CEU][hapmap]
rs10797978	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs10797984	0.91[CEU][hapmap];1.00[ASN][1000 genomes]
rs10798029	1.00[ASN][1000 genomes]
rs10911603	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs10911624	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10911627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911629	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081260	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs12117159	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120829	1.00[ASN][1000 genomes]
rs12124608	1.00[ASN][1000 genomes]
rs12130929	1.00[ASN][1000 genomes]
rs12132562	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132925	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133952	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134640	1.00[ASN][1000 genomes]
rs12134818	1.00[ASN][1000 genomes]
rs12134821	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137951	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141605	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142161	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12143377	0.88[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143497	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143622	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844588	1.00[ASN][1000 genomes]
rs17368984	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4471302	0.83[CEU][hapmap]
rs59476820	1.00[ASN][1000 genomes]
rs61330781	1.00[ASN][1000 genomes]
rs73048544	1.00[ASN][1000 genomes]
rs9425562	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs990363	0.83[CEU][hapmap];1.00[ASN][1000 genomes]

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172313400-172327000	Weak transcription	Aorta	Aorta
2	chr1:172319600-172322400	Enhancers	Fetal Kidney	kidney
3	chr1:172319800-172322400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:172320000-172322400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:172320000-172322400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:172320000-172322400	Enhancers	HSMMtube	muscle
7	chr1:172320000-172322600	Enhancers	NHLF	lung
8	chr1:172320600-172322400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:172320600-172322400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:172320600-172322400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:172320600-172322400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:172320600-172322400	Enhancers	HMEC	breast
13	chr1:172320600-172322600	Enhancers	Fetal Muscle Leg	muscle
14	chr1:172320800-172322400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:172320800-172332800	Enhancers	Fetal Intestine Small	intestine
16	chr1:172321000-172322400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:172321200-172322400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:172321200-172322400	Enhancers	Osteobl	bone
19	chr1:172321200-172323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:172321200-172324200	Enhancers	GM12878-XiMat	blood
21	chr1:172321200-172325000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:172321200-172325000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:172321200-172326400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:172321200-172327000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:172321200-172327200	Weak transcription	Right Atrium	heart
26	chr1:172321200-172329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:172321400-172322400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:172321400-172322600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:172321400-172323000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:172321400-172323000	Weak transcription	Fetal Intestine Large	intestine
31	chr1:172321400-172324000	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:172321400-172324200	Enhancers	Hela-S3	cervix
33	chr1:172321400-172325000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:172321400-172325200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:172321400-172325600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:172321400-172326600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:172321400-172327000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:172321400-172327000	Weak transcription	Small Intestine	intestine
39	chr1:172321400-172327200	Weak transcription	Ovary	ovary
40	chr1:172321600-172322600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:172321600-172325000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:172321600-172327200	Weak transcription	Fetal Heart	heart
43	chr1:172321800-172322600	Enhancers	NHEK	skin
44	chr1:172322000-172323000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:172322000-172323400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:172322000-172325200	Weak transcription	HUVEC	blood vessel
47	chr1:172322000-172325600	Weak transcription	NHDF-Ad	bronchial
48	chr1:172322000-172327000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:172322000-172327000	Weak transcription	Fetal Stomach	stomach
50	chr1:172322200-172322400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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