Variant report

Variant	rs73278760
Chromosome Location	chr7:14020429-14020430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13985844..13987492-chr7:14019235..14021498,3	K562	blood:
2	chr7:14014823..14017219-chr7:14018906..14020830,2	MCF-7	breast:
3	chr7:14006507..14011484-chr7:14016197..14021172,5	K562	blood:
4	chr7:13997566..14001513-chr7:14018273..14020813,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57331876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6945520	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6963305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278732	0.81[AFR][1000 genomes]
rs73278753	0.83[AFR][1000 genomes]
rs7806055	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:68 , 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	chr7:14011800-14022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:14012800-14027600	Weak transcription	Fetal Stomach	stomach
4	chr7:14013000-14027600	Weak transcription	Liver	Liver
5	chr7:14013000-14027800	Weak transcription	Aorta	Aorta
6	chr7:14015000-14027600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:14015800-14023800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:14016600-14025800	Weak transcription	Left Ventricle	heart
9	chr7:14017000-14024600	Enhancers	Fetal Heart	heart
10	chr7:14017400-14020800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:14017400-14023800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:14018000-14020600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:14018400-14022000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:14018600-14021000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:14018600-14021000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:14018600-14021800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:14018800-14021400	Enhancers	Fetal Lung	lung
18	chr7:14018800-14021800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:14018800-14022000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:14019200-14021200	Flanking Active TSS	HUVEC	blood vessel
21	chr7:14019200-14022800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:14019400-14020600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:14019400-14020800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:14019400-14020800	Active TSS	Right Atrium	heart
25	chr7:14019400-14020800	Enhancers	HMEC	breast
26	chr7:14019400-14021400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:14019400-14021600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:14019400-14021600	Enhancers	HSMM	muscle
29	chr7:14019400-14021800	Enhancers	NHEK	skin
30	chr7:14019600-14020600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr7:14019600-14020800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:14019600-14021400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:14019600-14021400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:14019600-14025000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:14019600-14025800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:14019600-14027800	Weak transcription	Psoas Muscle	Psoas
37	chr7:14019800-14020600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr7:14019800-14020800	Flanking Active TSS	NH-A	brain
39	chr7:14019800-14021000	Enhancers	Fetal Kidney	kidney
40	chr7:14019800-14021200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr7:14019800-14021200	Enhancers	Fetal Intestine Large	intestine
42	chr7:14019800-14021200	Enhancers	Stomach Smooth Muscle	stomach
43	chr7:14019800-14021200	Enhancers	HSMMtube	muscle
44	chr7:14019800-14021600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:14019800-14025000	Weak transcription	Brain Germinal Matrix	brain
46	chr7:14020000-14020800	Enhancers	Fetal Intestine Small	intestine
47	chr7:14020000-14022000	Enhancers	Osteobl	bone
48	chr7:14020200-14020600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr7:14020200-14020600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr7:14020200-14020600	Enhancers	Rectal Mucosa Donor 31	rectum

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