Variant report

Variant	rs73147625
Chromosome Location	chr7:98730391-98730392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98730089..98736251-chr7:98737057..98742639,7	MCF-7	breast:
2	chr7:98728809..98730588-chr7:98731841..98733406,2	K562	blood:
3	chr7:98725085..98728334-chr7:98729871..98732024,4	K562	blood:
4	chr7:98728487..98731419-chr7:98740223..98742348,2	MCF-7	breast:
5	chr7:98729782..98731427-chr7:98738611..98740186,2	MCF-7	breast:
6	chr7:98720831..98724792-chr7:98728821..98732987,4	K562	blood:
7	chr7:98714681..98717371-chr7:98728809..98730970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

Extended variants
information (count: 37 )
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	0.85[AFR][1000 genomes];0.92[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	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73147619	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147622	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147628	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147630	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147632	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147639	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73147651	0.91[EUR][1000 genomes]
rs73147652	0.88[EUR][1000 genomes]
rs73147654	0.88[EUR][1000 genomes]
rs73147655	0.88[EUR][1000 genomes]
rs7788750	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98707200-98739400	Weak transcription	Thymus	Thymus
2	chr7:98710000-98739200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:98710400-98730400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:98714400-98730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:98714800-98739400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:98717000-98731000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:98718200-98736400	Weak transcription	Dnd41	blood
8	chr7:98718800-98734800	Weak transcription	Fetal Brain Female	brain
9	chr7:98721800-98731200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:98721800-98735000	Weak transcription	HSMMtube	muscle
11	chr7:98721800-98735400	Enhancers	Stomach Mucosa	stomach
12	chr7:98722000-98739600	Weak transcription	Primary B cells from cord blood	blood
13	chr7:98722200-98731400	Weak transcription	Primary T cells from cord blood	blood
14	chr7:98722200-98738600	Weak transcription	Fetal Intestine Small	intestine
15	chr7:98722400-98733000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:98722400-98739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:98722600-98730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:98722600-98734800	Weak transcription	Fetal Heart	heart
19	chr7:98723400-98735800	Weak transcription	Hela-S3	cervix
20	chr7:98723600-98735000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:98723600-98738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:98723800-98738600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:98724400-98731000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:98725000-98731800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:98725000-98731800	Weak transcription	Fetal Lung	lung
26	chr7:98725000-98734800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:98725000-98735000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:98725000-98739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:98726000-98731400	Weak transcription	HSMM	muscle
30	chr7:98726200-98730600	Weak transcription	NH-A	brain
31	chr7:98726400-98730400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:98726400-98730400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:98726400-98730400	Weak transcription	Fetal Stomach	stomach
34	chr7:98726600-98734800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:98726800-98734400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:98727000-98730400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:98727000-98730600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:98727000-98730800	Enhancers	Pancreas	Pancrea
39	chr7:98727600-98731200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:98727600-98731400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:98727600-98733600	Weak transcription	NHDF-Ad	bronchial
42	chr7:98728000-98733000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:98728200-98731400	Enhancers	K562	blood
44	chr7:98728200-98733400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:98728400-98730800	Enhancers	Brain Substantia Nigra	brain
46	chr7:98728400-98730800	Enhancers	Esophagus	oesophagus
47	chr7:98728400-98731000	Weak transcription	A549	lung
48	chr7:98728400-98731200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:98728400-98732000	Enhancers	Small Intestine	intestine
50	chr7:98728600-98730600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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