Variant report

Variant	rs7951614
Chromosome Location	chr11:72744798-72744799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72743552..72745923-chr11:72752498..72755495,2	MCF-7	breast:
2	chr11:72740332..72742221-chr11:72743270..72746059,2	K562	blood:
3	chr11:72741325..72744798-chr11:72852592..72854519,3	K562	blood:

Variant related genes	Relation type
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1025411	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732893	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10736788	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10736789	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736791	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10751219	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10898888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898892	1.00[EUR][1000 genomes]
rs11235608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11824394	1.00[EUR][1000 genomes]
rs12099370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1380574	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1380575	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2060072	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2365906	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3903492	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4594026	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944015	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4944019	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4944814	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4944817	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55787543	1.00[EUR][1000 genomes]
rs55838097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55888199	1.00[EUR][1000 genomes]
rs56133665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56154220	1.00[EUR][1000 genomes]
rs56283764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56316448	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57731198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58192366	1.00[EUR][1000 genomes]
rs59925945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219481	1.00[EUR][1000 genomes]
rs60812177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60877622	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61424140	0.81[AFR][1000 genomes]
rs6592494	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6592495	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592502	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7102424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7107817	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7115321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117220	0.97[AFR][1000 genomes]
rs7117786	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7118144	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7122566	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7130559	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs72984941	0.83[EUR][1000 genomes]
rs72984946	1.00[EUR][1000 genomes]
rs72984947	1.00[EUR][1000 genomes]
rs72984948	1.00[EUR][1000 genomes]
rs7395081	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7930535	1.00[EUR][1000 genomes]
rs7946019	1.00[EUR][1000 genomes]
rs898384	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs975261	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs994305	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72722600-72746400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:72724400-72761000	Weak transcription	HSMM	muscle
3	chr11:72730800-72751000	Weak transcription	HSMMtube	muscle
4	chr11:72734200-72755200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:72736600-72750200	Weak transcription	Psoas Muscle	Psoas
6	chr11:72739200-72759200	Weak transcription	Aorta	Aorta
7	chr11:72739400-72746200	Weak transcription	Gastric	stomach
8	chr11:72739400-72748200	Weak transcription	Right Ventricle	heart
9	chr11:72739400-72748400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:72739400-72753000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:72739400-72765800	Weak transcription	Spleen	Spleen
12	chr11:72739600-72746000	Weak transcription	Fetal Lung	lung
13	chr11:72739600-72757800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:72739600-72759200	Weak transcription	Osteobl	bone
15	chr11:72739800-72745400	Weak transcription	Liver	Liver
16	chr11:72740000-72748400	Weak transcription	HepG2	liver
17	chr11:72740000-72753200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:72740000-72757400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:72740000-72758400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:72740000-72758800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:72740000-72759200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:72740000-72771800	Weak transcription	Fetal Stomach	stomach
23	chr11:72740800-72745200	Weak transcription	Thymus	Thymus
24	chr11:72740800-72746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:72740800-72746200	Weak transcription	Left Ventricle	heart
26	chr11:72740800-72749400	Weak transcription	Fetal Intestine Large	intestine
27	chr11:72740800-72750200	Weak transcription	Ovary	ovary
28	chr11:72740800-72751000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:72740800-72758400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:72741000-72745200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:72741000-72745400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:72741000-72745800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:72741200-72745400	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:72741200-72745800	Weak transcription	Brain Anterior Caudate	brain
35	chr11:72741400-72746400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:72741400-72749400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:72741400-72749400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:72741400-72750200	Weak transcription	Lung	lung
39	chr11:72741400-72765000	Weak transcription	Fetal Heart	heart
40	chr11:72741600-72746200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:72741600-72749400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:72741600-72749800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:72742000-72757800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:72743200-72745200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr11:72743200-72745400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr11:72743200-72746800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:72743400-72745200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:72743400-72745400	Enhancers	Primary T cells from cord blood	blood
49	chr11:72743400-72746600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:72743400-72747200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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