Variant report

Variant	rs2502641
Chromosome Location	chr6:144671639-144671640
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144671254..144672966-chr6:144680487..144682454,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1080022	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11965388	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2223427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4538732	1.00[CHB][hapmap]
rs6901521	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6904291	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6920634	1.00[CHB][hapmap]
rs7753308	1.00[CHB][hapmap]
rs7763097	1.00[JPT][hapmap]
rs7765364	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7770410	1.00[CHB][hapmap]

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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
2	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:144663200-144685800	Weak transcription	Brain Substantia Nigra	brain
4	chr6:144663400-144675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:144665400-144696400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:144667600-144674800	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:144668800-144672400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:144668800-144672600	Weak transcription	Esophagus	oesophagus
9	chr6:144668800-144673000	Weak transcription	Brain Angular Gyrus	brain
10	chr6:144668800-144673000	Weak transcription	Placenta	Placenta
11	chr6:144668800-144681600	Weak transcription	Small Intestine	intestine
12	chr6:144669000-144672600	Weak transcription	HSMMtube	muscle
13	chr6:144669400-144672600	Weak transcription	Right Ventricle	heart
14	chr6:144669400-144673000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:144670400-144671800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:144670400-144671800	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:144670400-144672000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:144670400-144672200	Enhancers	Liver	Liver
19	chr6:144670400-144672200	Enhancers	Osteobl	bone
20	chr6:144670400-144673400	Flanking Active TSS	HUVEC	blood vessel
21	chr6:144670400-144674000	Flanking Active TSS	Dnd41	blood
22	chr6:144670400-144674200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr6:144670400-144674200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr6:144670600-144671800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:144670600-144671800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:144670600-144671800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:144670600-144671800	Enhancers	HSMM	muscle
28	chr6:144670600-144672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:144670600-144672400	Weak transcription	Psoas Muscle	Psoas
30	chr6:144670600-144672800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:144670600-144673200	Genic enhancers	HepG2	liver
32	chr6:144670800-144671800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:144670800-144671800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:144670800-144671800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:144670800-144672000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr6:144670800-144672000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:144670800-144672000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr6:144670800-144672000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:144670800-144672200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:144670800-144672200	Flanking Active TSS	NHEK	skin
41	chr6:144670800-144672800	Enhancers	Stomach Smooth Muscle	stomach
42	chr6:144670800-144673200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:144670800-144673400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr6:144670800-144673400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:144670800-144673400	Enhancers	Fetal Heart	heart
46	chr6:144670800-144673600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr6:144670800-144673800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr6:144670800-144673800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr6:144670800-144673800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:144670800-144674200	Enhancers	Primary neutrophils fromperipheralblood	blood

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