Variant report

Variant	rs2192241
Chromosome Location	chr4:26986737-26986738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26876720..26878835-chr4:26986672..26989304,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10028164	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031905	1.00[EUR][1000 genomes]
rs1035075	1.00[EUR][1000 genomes]
rs1860981	1.00[EUR][1000 genomes]
rs2309497	1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	1.00[ASW][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4140681	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4599399	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692016	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692017	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692018	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4692135	0.83[AMR][1000 genomes]
rs4692138	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55646519	1.00[EUR][1000 genomes]
rs56001106	1.00[EUR][1000 genomes]
rs56810203	1.00[EUR][1000 genomes]
rs57668778	1.00[EUR][1000 genomes]
rs57810647	1.00[EUR][1000 genomes]
rs59530500	1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	1.00[EUR][1000 genomes]
rs6448490	1.00[EUR][1000 genomes]
rs6841079	1.00[EUR][1000 genomes]
rs6858361	1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	1.00[EUR][1000 genomes]
rs73116653	1.00[EUR][1000 genomes]
rs73116655	1.00[EUR][1000 genomes]
rs73116657	1.00[EUR][1000 genomes]
rs73116660	1.00[EUR][1000 genomes]
rs73116665	1.00[EUR][1000 genomes]
rs73116670	1.00[EUR][1000 genomes]
rs73116672	1.00[EUR][1000 genomes]
rs73116675	1.00[EUR][1000 genomes]
rs7670520	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7688601	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887792	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887794	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9790760	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26961800-26994000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:26963600-26994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:26966600-26989000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:26966600-26994600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:26975800-27003200	Weak transcription	Aorta	Aorta
6	chr4:26977800-26988600	Weak transcription	Fetal Thymus	thymus
7	chr4:26978000-26987400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:26978000-26994600	Weak transcription	Fetal Stomach	stomach
9	chr4:26978400-27019200	Weak transcription	Fetal Intestine Small	intestine
10	chr4:26978800-26988600	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:26979600-26988600	Weak transcription	Thymus	Thymus
12	chr4:26980400-26988600	Weak transcription	Ovary	ovary
13	chr4:26980400-26994800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:26980400-27019400	Weak transcription	Left Ventricle	heart
15	chr4:26984600-26989000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:26984800-26988800	Weak transcription	Pancreas	Pancrea
17	chr4:26984800-26989000	Weak transcription	HepG2	liver
18	chr4:26984800-26989400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:26984800-26993400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:26984800-26993400	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:26985000-26987600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:26985200-26987600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:26985400-26989600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr4:26985400-27019400	Weak transcription	Esophagus	oesophagus
25	chr4:26985800-26987400	Enhancers	Primary T cells from cord blood	blood
26	chr4:26985800-26989000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:26986000-26986800	Enhancers	Psoas Muscle	Psoas
28	chr4:26986000-26987200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:26986000-26994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:26986200-26986800	Enhancers	Fetal Lung	lung
31	chr4:26986200-26989400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:26986200-26989600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:26986200-26994400	Weak transcription	Right Atrium	heart
34	chr4:26986400-26988400	Enhancers	Dnd41	blood
35	chr4:26986400-26988800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:26986400-26989000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:26986400-26989000	Enhancers	Fetal Heart	heart
38	chr4:26986400-26989400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:26986400-26989400	Enhancers	HSMMtube	muscle
40	chr4:26986400-26994600	Weak transcription	Small Intestine	intestine
41	chr4:26986600-26986800	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:26986600-26986800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr4:26986600-26986800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:26986600-26986800	Enhancers	NH-A	brain
45	chr4:26986600-26987000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:26986600-26987000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr4:26986600-26987000	Weak transcription	HSMM	muscle
48	chr4:26986600-26987800	Enhancers	Primary hematopoietic stem cells	blood
49	chr4:26986600-26988800	Enhancers	Primary B cells from cord blood	blood
50	chr4:26986600-26988800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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