Variant report

Variant	rs73147622
Chromosome Location	chr7:98724365-98724366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98714871..98717070-chr7:98723564..98725401,2	K562	blood:
2	chr7:98718671..98728659-chr7:98733886..98742869,16	K562	blood:
3	chr7:98722011..98724574-chr7:98735793..98737369,2	K562	blood:
4	chr7:98719225..98722098-chr7:98723102..98725417,4	K562	blood:
5	chr7:98715570..98717243-chr7:98723901..98726967,3	K562	blood:
6	chr7:98707262..98709177-chr7:98722207..98724436,2	MCF-7	breast:
7	chr7:98720831..98724792-chr7:98728821..98732987,4	K562	blood:

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	1.00[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	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73147619	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147625	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147630	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147632	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147639	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73147651	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73147652	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73147654	0.88[EUR][1000 genomes]
rs73147655	0.83[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:111 , 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	chr7:98710400-98730400	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	chr7:98718200-98726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:98718200-98728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:98718200-98736400	Weak transcription	Dnd41	blood
10	chr7:98718800-98725000	Enhancers	Placenta	Placenta
11	chr7:98718800-98734800	Weak transcription	Fetal Brain Female	brain
12	chr7:98719400-98726000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:98719800-98729600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:98720400-98726400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:98721000-98725800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:98721200-98726400	Enhancers	Brain Anterior Caudate	brain
17	chr7:98721400-98724600	Enhancers	K562	blood
18	chr7:98721800-98724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:98721800-98724600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:98721800-98724600	Weak transcription	Right Ventricle	heart
21	chr7:98721800-98731200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:98721800-98735000	Weak transcription	HSMMtube	muscle
23	chr7:98721800-98735400	Enhancers	Stomach Mucosa	stomach
24	chr7:98722000-98724800	Weak transcription	HSMM	muscle
25	chr7:98722000-98739600	Weak transcription	Primary B cells from cord blood	blood
26	chr7:98722200-98724600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:98722200-98724600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:98722200-98725800	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:98722200-98726000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:98722200-98729400	Weak transcription	Left Ventricle	heart
31	chr7:98722200-98731400	Weak transcription	Primary T cells from cord blood	blood
32	chr7:98722200-98738600	Weak transcription	Fetal Intestine Small	intestine
33	chr7:98722400-98724400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:98722400-98724400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:98722400-98724600	Enhancers	NHEK	skin
36	chr7:98722400-98725600	Weak transcription	Fetal Stomach	stomach
37	chr7:98722400-98725800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:98722400-98733000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:98722400-98739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:98722600-98724400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:98722600-98724600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:98722600-98724600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:98722600-98724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:98722600-98724600	Weak transcription	NHDF-Ad	bronchial
45	chr7:98722600-98724600	Weak transcription	NHLF	lung
46	chr7:98722600-98725600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:98722600-98725800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:98722600-98726000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:98722600-98730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:98722600-98734800	Weak transcription	Fetal Heart	heart

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