Variant report

Variant	rs73147630
Chromosome Location	chr7:98736184-98736185
allele	C/G
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	chr7:98727310..98730186-chr7:98733337..98736321,3	MCF-7	breast:
3	chr7:98722011..98724574-chr7:98735793..98737369,2	K562	blood:
4	chr7:98725270..98727490-chr7:98735625..98737953,2	K562	blood:
5	chr7:98728384..98730331-chr7:98733811..98736717,2	MCF-7	breast:
6	chr7:98721212..98723989-chr7:98732516..98736189,3	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	0.89[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]
rs73147632	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: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:118 , 50 per page) page: 1 2 3

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	chr7:98714800-98739400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:98718200-98736400	Weak transcription	Dnd41	blood
5	chr7:98722000-98739600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:98722200-98738600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:98722400-98739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:98723600-98738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:98723800-98738600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:98725000-98739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:98730800-98738000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:98730800-98739400	Weak transcription	Right Ventricle	heart
13	chr7:98730800-98739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:98731000-98739600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:98731400-98738600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:98731800-98738400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:98731800-98739400	Weak transcription	Fetal Intestine Large	intestine
18	chr7:98732000-98736200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:98732200-98736400	Weak transcription	Primary T cells from cord blood	blood
20	chr7:98732200-98738200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:98732200-98738400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:98732200-98739400	Weak transcription	K562	blood
23	chr7:98732200-98739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:98732800-98738400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:98733800-98738600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:98733800-98738600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:98733800-98739400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:98734000-98736800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:98734200-98737400	Enhancers	Adipose Nuclei	Adipose
30	chr7:98734200-98738400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:98734400-98737200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:98734400-98738800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:98734600-98737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:98734600-98738200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr7:98734600-98739200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:98734800-98737200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:98734800-98737200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:98735000-98736200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:98735000-98736200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:98735000-98736600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:98735000-98736800	Flanking Active TSS	NHDF-Ad	bronchial
42	chr7:98735000-98737200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr7:98735000-98737600	Enhancers	HMEC	breast
44	chr7:98735200-98737200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:98735200-98738400	Weak transcription	Small Intestine	intestine
46	chr7:98735200-98738600	Enhancers	Liver	Liver
47	chr7:98735200-98738600	Weak transcription	GM12878-XiMat	blood
48	chr7:98735200-98738600	Enhancers	HepG2	liver
49	chr7:98735200-98739400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:98735200-98739600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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