Variant report

Variant	rs11120288
Chromosome Location	chr1:214462988-214462989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214461559..214464965-chr1:214465950..214468310,3	K562	blood:
2	chr1:214460531..214463477-chr1:214488827..214490849,2	MCF-7	breast:
3	chr1:214462833..214466759-chr1:214468117..214470451,4	K562	blood:
4	chr1:214461471..214463452-chr1:214488205..214490327,2	K562	blood:
5	chr1:214453247..214457294-chr1:214460008..214465638,7	MCF-7	breast:
6	chr1:214457192..214459073-chr1:214461952..214463618,2	K562	blood:
7	chr1:214462387..214466759-chr1:214468789..214472105,4	K562	blood:

Variant related genes	Relation type
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12735074	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2133176	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6691532	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7522398	0.85[YRI][hapmap]
rs7544984	0.80[ASW][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9308434	0.80[ASW][hapmap];0.97[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214455400-214463200	Weak transcription	Lung	lung
2	chr1:214455600-214487800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:214455600-214489000	Weak transcription	Ovary	ovary
4	chr1:214455800-214463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:214456000-214469200	Weak transcription	NH-A	brain
6	chr1:214456200-214463000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:214456200-214463800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:214456200-214469800	Weak transcription	Fetal Lung	lung
9	chr1:214456400-214463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:214456400-214463000	Weak transcription	Psoas Muscle	Psoas
11	chr1:214456400-214463000	Weak transcription	Right Atrium	heart
12	chr1:214456400-214468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:214456400-214470000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:214456400-214491800	Weak transcription	Pancreas	Pancrea
15	chr1:214456600-214463000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:214456600-214463000	Weak transcription	Left Ventricle	heart
17	chr1:214456600-214467800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:214456600-214483200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:214456800-214463000	Weak transcription	Spleen	Spleen
20	chr1:214456800-214465000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:214456800-214465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:214456800-214468800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:214456800-214470000	Weak transcription	HMEC	breast
24	chr1:214457200-214463000	Weak transcription	Right Ventricle	heart
25	chr1:214457200-214478200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:214458600-214470000	Weak transcription	A549	lung
27	chr1:214458800-214463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:214459200-214463000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:214459200-214468200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:214459200-214469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:214459200-214483000	Weak transcription	Liver	Liver
32	chr1:214459200-214491400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:214459400-214464400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:214459600-214463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:214459600-214468800	Weak transcription	GM12878-XiMat	blood
36	chr1:214459800-214467800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:214461400-214463000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:214461400-214465600	Enhancers	Fetal Heart	heart
39	chr1:214461400-214475800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:214461600-214463600	Genic enhancers	HepG2	liver
41	chr1:214461600-214475600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:214461600-214483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:214461800-214468800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:214461800-214482800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:214462000-214469200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:214462000-214469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:214462000-214469600	Weak transcription	Hela-S3	cervix
48	chr1:214462000-214471400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:214462000-214491800	Weak transcription	NHEK	skin
50	chr1:214462200-214463000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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