Variant report

Variant	rs4715922
Chromosome Location	chr6:14743537-14743538
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:14736458..14739208-chr6:14742819..14744601,3	K562	blood:
2	chr6:14743112..14746025-chr6:14761526..14763688,5	MCF-7	breast:
3	chr6:14742305..14744752-chr6:15222484..15225143,3	MCF-7	breast:
4	chr6:14723271..14725963-chr6:14742702..14744914,2	MCF-7	breast:
5	chr6:14740809..14742542-chr6:14742789..14745610,2	K562	blood:
6	chr6:14726660..14728814-chr6:14743224..14745170,2	MCF-7	breast:
7	chr6:14741983..14744344-chr6:15066073..15067702,2	MCF-7	breast:
8	chr6:14742689..14745266-chr6:15089259..15092488,3	MCF-7	breast:
9	chr6:14689204..14691508-chr6:14742647..14744690,2	K562	blood:
10	chr6:14739993..14742172-chr6:14742805..14745724,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234261	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1010703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038015	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038017	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2472789	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2472790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472793	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2472794	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2472797	1.00[JPT][hapmap]
rs2472798	1.00[JPT][hapmap]
rs2500065	1.00[ASN][1000 genomes]
rs2500066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500070	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500075	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500078	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2500079	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4145445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712240	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6935110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743941	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7744561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926242	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9367851	1.00[ASN][1000 genomes]
rs9370778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382996	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382999	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9383000	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396529	1.00[ASN][1000 genomes]
rs9396530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464714	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476648	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462641	chr6:14203872-14764983	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv600997	chr6:14203872-14764983	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv17333	chr6:14740872-14745737	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3471679	chr6:14743273-14747671	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv511851	chr6:14743396-14745783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:14737400-14758600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:14737600-14743600	Weak transcription	Spleen	Spleen
5	chr6:14739600-14744000	Weak transcription	Thymus	Thymus
6	chr6:14740000-14743600	Weak transcription	Primary T cells from cord blood	blood
7	chr6:14740000-14743600	Weak transcription	Fetal Thymus	thymus
8	chr6:14740200-14743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:14740400-14743800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:14742000-14745200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:14742000-14746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:14742200-14744800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:14742200-14745000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:14742400-14744200	Flanking Active TSS	NHEK	skin
15	chr6:14742600-14744200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:14742600-14744600	Enhancers	NHDF-Ad	bronchial
17	chr6:14742800-14743600	Flanking Active TSS	HMEC	breast
18	chr6:14742800-14744000	Enhancers	K562	blood
19	chr6:14742800-14744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:14743000-14743600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:14743000-14743600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr6:14743000-14743800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:14743000-14743800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:14743000-14744200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:14743000-14744200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr6:14743000-14744400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:14743000-14744400	Flanking Active TSS	Hela-S3	cervix
28	chr6:14743000-14744600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:14743000-14744600	Enhancers	GM12878-XiMat	blood
30	chr6:14743000-14744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:14743200-14743600	Flanking Active TSS	NH-A	brain
32	chr6:14743200-14743800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:14743200-14744000	Enhancers	Placenta	Placenta
34	chr6:14743200-14744200	Flanking Active TSS	HSMMtube	muscle
35	chr6:14743200-14744400	Flanking Active TSS	Osteobl	bone
36	chr6:14743200-14744800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:14743200-14745400	Enhancers	Stomach Mucosa	stomach
38	chr6:14743400-14743600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:14743400-14743600	Enhancers	Right Atrium	heart
40	chr6:14743400-14743600	Flanking Active TSS	HSMM	muscle
41	chr6:14743400-14743600	Flanking Active TSS	NHLF	lung
42	chr6:14743400-14744200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:14743400-14744200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr6:14743400-14744200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr6:14743400-14744200	Enhancers	Adipose Nuclei	Adipose
46	chr6:14743400-14744200	Enhancers	Esophagus	oesophagus
47	chr6:14743400-14744200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:14743400-14744600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:14743400-14744600	Flanking Active TSS	A549	lung

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