Variant report

Variant	rs6914610
Chromosome Location	chr6:45468074-45468075
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45464191..45466468-chr6:45467404..45469996,2	K562	blood:
2	chr6:45465666..45468253-chr6:45472384..45474862,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12665523	0.87[JPT][hapmap]
rs16873429	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs16873437	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1934328	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2396441	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs4711816	0.83[JPT][hapmap]
rs62400362	0.87[EUR][1000 genomes]
rs62400365	0.85[EUR][1000 genomes]
rs73448164	0.81[ASN][1000 genomes]
rs7750266	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs7750470	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7754187	0.82[JPT][hapmap]
rs7754227	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs7773875	1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45448400-45472000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:45448800-45468400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:45449000-45472600	Weak transcription	NHEK	skin
4	chr6:45452000-45472600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:45454000-45471800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:45458000-45469800	Weak transcription	Hela-S3	cervix
7	chr6:45459400-45472600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:45460000-45468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:45461200-45480000	Weak transcription	NHDF-Ad	bronchial
10	chr6:45462400-45472000	Weak transcription	NHLF	lung
11	chr6:45462800-45469800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:45463400-45471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:45463800-45468200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:45464000-45471800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:45464200-45472600	Weak transcription	K562	blood
16	chr6:45464400-45472600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:45464600-45470600	Weak transcription	NH-A	brain
18	chr6:45464800-45479800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:45465000-45468800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:45465000-45469000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:45465000-45479400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:45465000-45480000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:45465800-45480000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:45466000-45480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:45466400-45483400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:45466600-45468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:45466800-45468400	Weak transcription	Dnd41	blood
29	chr6:45466800-45472600	Weak transcription	Gastric	stomach
30	chr6:45466800-45488200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:45466800-45497200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:45467000-45468400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:45467200-45468200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:45467200-45468200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:45467200-45468800	Weak transcription	Psoas Muscle	Psoas
36	chr6:45467200-45471000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:45467200-45471200	Weak transcription	Fetal Thymus	thymus
38	chr6:45467200-45471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:45467200-45472600	Weak transcription	Fetal Lung	lung
40	chr6:45467200-45472600	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:45467200-45475400	Weak transcription	Small Intestine	intestine
42	chr6:45467200-45480000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr6:45467200-45487800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:45467400-45468400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:45467400-45471800	Weak transcription	HSMMtube	muscle
46	chr6:45467400-45472000	Weak transcription	Primary T cells from cord blood	blood
47	chr6:45467400-45480000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:45467600-45480000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:45467800-45468400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:45468000-45469200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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