Variant report

Variant	rs6963305
Chromosome Location	chr7:14023524-14023525
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	chr7:13980622..13983188-chr7:14022030..14023536,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57331876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6945520	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6974152	1.00[CHD][hapmap]
rs73278732	0.81[AFR][1000 genomes]
rs73278753	0.83[AFR][1000 genomes]
rs73278760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7806055	1.00[ASW][hapmap];0.82[MKK][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers 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
2	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv887702	chr7:13995209-14027557	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv606279	chr7:13995209-14027991	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv887703	chr7:13997159-14027557	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv887704	chr7:13997159-14029739	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14010400-14027800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:14012800-14027600	Weak transcription	Fetal Stomach	stomach
3	chr7:14013000-14027600	Weak transcription	Liver	Liver
4	chr7:14013000-14027800	Weak transcription	Aorta	Aorta
5	chr7:14015000-14027600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:14015800-14023800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:14016600-14025800	Weak transcription	Left Ventricle	heart
8	chr7:14017000-14024600	Enhancers	Fetal Heart	heart
9	chr7:14017400-14023800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:14019600-14025000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:14019600-14025800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:14019600-14027800	Weak transcription	Psoas Muscle	Psoas
13	chr7:14019800-14025000	Weak transcription	Brain Germinal Matrix	brain
14	chr7:14020200-14025800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:14020400-14025800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:14020800-14023800	Weak transcription	Right Atrium	heart
17	chr7:14020800-14024400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:14021000-14024400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:14021000-14024800	Weak transcription	Fetal Kidney	kidney
20	chr7:14021000-14027600	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:14021000-14027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:14021200-14024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:14021200-14025000	Weak transcription	NH-A	brain
24	chr7:14021200-14025800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:14021200-14027800	Weak transcription	HSMMtube	muscle
26	chr7:14021400-14024400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:14021400-14027000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:14021600-14027400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:14021800-14025400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:14021800-14025800	Weak transcription	HUVEC	blood vessel
31	chr7:14021800-14027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:14021800-14027800	Weak transcription	NHEK	skin
33	chr7:14022000-14026000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:14022400-14023600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:14022400-14023600	Enhancers	Osteobl	bone
36	chr7:14022400-14023800	Enhancers	NHLF	lung
37	chr7:14022400-14025000	Enhancers	Fetal Lung	lung
38	chr7:14022800-14023800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:14022800-14023800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:14022800-14024000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:14022800-14024800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:14022800-14025000	Weak transcription	NHDF-Ad	bronchial
43	chr7:14022800-14025800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:14022800-14027600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:14022800-14032000	Active TSS	K562	blood
46	chr7:14022800-14032200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr7:14023000-14023800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:14023000-14023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:14023000-14024600	Weak transcription	HMEC	breast
50	chr7:14023000-14029800	Active TSS	Cortex derived primary cultured neurospheres	brain

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