Variant report

Variant	rs73147632
Chromosome Location	chr7:98739796-98739797
allele	G/T
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98738717..98741614-chr7:98773276..98775542,2	K562	blood:
2	chr7:98725464..98728251-chr7:98738859..98741076,3	K562	blood:
3	chr7:98739456..98741292-chr7:98918688..98921036,2	MCF-7	breast:
4	chr7:98666324..98669111-chr7:98738998..98741505,2	MCF-7	breast:
5	chr7:98685362..98687722-chr7:98738938..98740939,2	K562	blood:
6	chr7:98678288..98682057-chr7:98738982..98742511,4	MCF-7	breast:
7	chr7:98729782..98731427-chr7:98738611..98740186,2	MCF-7	breast:
8	chr7:98739614..98743126-chr7:98922770..98926033,5	MCF-7	breast:
9	chr7:98738526..98746153-chr7:98804876..98809686,18	MCF-7	breast:
10	chr7:98737351..98739969-chr7:98796808..98799355,2	MCF-7	breast:
11	chr7:98645170..98647801-chr7:98738848..98740476,2	MCF-7	breast:
12	chr7:98739038..98741115-chr7:98797135..98798989,2	K562	blood:
13	chr7:98738519..98741248-chr7:98774626..98776239,2	MCF-7	breast:
14	chr7:98739484..98741856-chr7:99035435..99038061,2	K562	blood:
15	chr7:98738431..98740200-chr7:98866049..98867571,2	MCF-7	breast:
16	chr7:98738148..98740026-chr7:98743359..98745839,2	MCF-7	breast:
17	chr7:98737541..98740084-chr7:98792661..98794883,2	MCF-7	breast:
18	chr1:212032006..212034997-chr7:98739173..98741161,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160917	Chromatin interaction
ENSG00000198742	Chromatin interaction
ENSG00000185467	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000106246	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10248890	0.98[EUR][1000 genomes]
rs10254104	0.91[EUR][1000 genomes]
rs10266364	0.93[EUR][1000 genomes]
rs11764542	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918019	0.93[EUR][1000 genomes]
rs1918020	0.98[EUR][1000 genomes]
rs1918021	0.98[EUR][1000 genomes]
rs2395022	0.98[EUR][1000 genomes]
rs2395048	0.93[EUR][1000 genomes]
rs2395049	0.88[EUR][1000 genomes]
rs2395050	0.93[EUR][1000 genomes]
rs2395051	0.91[EUR][1000 genomes]
rs2894224	0.89[EUR][1000 genomes]
rs4454228	0.98[EUR][1000 genomes]
rs60083526	1.00[EUR][1000 genomes]
rs62473047	0.91[EUR][1000 genomes]
rs6465739	0.93[EUR][1000 genomes]
rs6956645	0.93[EUR][1000 genomes]
rs6961749	0.89[EUR][1000 genomes]
rs6962075	0.98[EUR][1000 genomes]
rs6969313	0.98[EUR][1000 genomes]
rs6975245	0.98[EUR][1000 genomes]
rs73147614	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73147619	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147622	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147625	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147628	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147639	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73147651	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73147652	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73147654	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73147655	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7788750	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2755119	chr7:98721885-98800145	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv1792421	chr7:98737119-98752081	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	esv3370738	chr7:98739216-98743614	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98736000-98741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98737600-98740600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:98738400-98740200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:98738600-98739800	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr7:98738600-98740000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:98738600-98740000	Flanking Active TSS	NH-A	brain
7	chr7:98738600-98740200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr7:98738600-98740200	Flanking Active TSS	Liver	Liver
9	chr7:98738600-98740400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:98738600-98740600	Enhancers	Fetal Heart	heart
11	chr7:98738600-98742000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:98738600-98742000	Active TSS	Brain Hippocampus Middle	brain
13	chr7:98738600-98742400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:98738600-98742400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:98738600-98742400	Active TSS	Aorta	Aorta
16	chr7:98738600-98742400	Active TSS	Ovary	ovary
17	chr7:98738800-98739800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:98738800-98740200	Flanking Active TSS	HUVEC	blood vessel
19	chr7:98738800-98741000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr7:98738800-98741000	Active TSS	Right Atrium	heart
21	chr7:98738800-98742000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:98738800-98742000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:98738800-98742000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:98738800-98742000	Active TSS	HMEC	breast
25	chr7:98738800-98742000	Active TSS	HSMM	muscle
26	chr7:98738800-98742000	Active TSS	HSMMtube	muscle
27	chr7:98738800-98742000	Active TSS	NHDF-Ad	bronchial
28	chr7:98738800-98742200	Active TSS	NHLF	lung
29	chr7:98738800-98742400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:98738800-98742600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:98739000-98740000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr7:98739000-98740000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:98739000-98740000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr7:98739000-98740000	Enhancers	Fetal Brain Male	brain
35	chr7:98739000-98740200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr7:98739000-98740400	Enhancers	Small Intestine	intestine
37	chr7:98739000-98740600	Active TSS	Stomach Mucosa	stomach
38	chr7:98739000-98740800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr7:98739000-98741000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:98739000-98742000	Active TSS	NHEK	skin
41	chr7:98739000-98742200	Active TSS	Brain Anterior Caudate	brain
42	chr7:98739000-98742400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:98739000-98742600	Active TSS	Rectal Smooth Muscle	rectum
44	chr7:98739200-98740000	Flanking Active TSS	Fetal Brain Female	brain
45	chr7:98739200-98740200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr7:98739200-98740200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr7:98739200-98740200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:98739200-98740200	Flanking Active TSS	Hela-S3	cervix
49	chr7:98739200-98740400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:98739200-98740800	Enhancers	Primary B cells from peripheral blood	blood

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