Variant report

Variant	rs7788750
Chromosome Location	chr7:98739231-98739232
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr7:98666324..98669111-chr7:98738998..98741505,2	MCF-7	breast:
4	chr7:98702976..98705646-chr7:98736902..98739331,2	K562	blood:
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	chr7:98738526..98746153-chr7:98804876..98809686,18	MCF-7	breast:
9	chr7:98737351..98739969-chr7:98796808..98799355,2	MCF-7	breast:
10	chr7:98645170..98647801-chr7:98738848..98740476,2	MCF-7	breast:
11	chr7:98739038..98741115-chr7:98797135..98798989,2	K562	blood:
12	chr7:98738519..98741248-chr7:98774626..98776239,2	MCF-7	breast:
13	chr7:98738431..98740200-chr7:98866049..98867571,2	MCF-7	breast:
14	chr7:98738148..98740026-chr7:98743359..98745839,2	MCF-7	breast:
15	chr7:98737541..98740084-chr7:98792661..98794883,2	MCF-7	breast:
16	chr1:212032006..212034997-chr7:98739173..98741161,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction
ENSG00000185467	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	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	1.00[CEU][hapmap];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	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs60083526	0.94[AMR][1000 genomes];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	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs73147614	0.88[EUR][1000 genomes]
rs73147619	1.00[EUR][1000 genomes]
rs73147622	1.00[EUR][1000 genomes]
rs73147625	1.00[EUR][1000 genomes]
rs73147628	1.00[EUR][1000 genomes]
rs73147630	1.00[EUR][1000 genomes]
rs73147632	1.00[EUR][1000 genomes]
rs73147639	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]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98707200-98739400	Weak transcription	Thymus	Thymus
2	chr7:98714800-98739400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:98722000-98739600	Weak transcription	Primary B cells from cord blood	blood
4	chr7:98722400-98739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:98725000-98739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:98730800-98739400	Weak transcription	Right Ventricle	heart
7	chr7:98730800-98739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:98731000-98739600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:98731800-98739400	Weak transcription	Fetal Intestine Large	intestine
10	chr7:98732200-98739400	Weak transcription	K562	blood
11	chr7:98732200-98739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:98733800-98739400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:98735200-98739400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:98735200-98739600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:98735200-98739600	Weak transcription	Lung	lung
16	chr7:98735400-98739400	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:98735400-98739400	Weak transcription	Placenta	Placenta
18	chr7:98735400-98739400	Weak transcription	Left Ventricle	heart
19	chr7:98735400-98739400	Weak transcription	Psoas Muscle	Psoas
20	chr7:98735400-98739600	Weak transcription	Gastric	stomach
21	chr7:98735400-98739600	Weak transcription	Spleen	Spleen
22	chr7:98736000-98741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:98736800-98739400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:98737000-98739400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:98737400-98739400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:98737600-98740600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:98737800-98739400	Weak transcription	Fetal Kidney	kidney
28	chr7:98738200-98739400	Enhancers	Dnd41	blood
29	chr7:98738400-98739400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:98738400-98739400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:98738400-98739400	Weak transcription	Esophagus	oesophagus
32	chr7:98738400-98739400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:98738400-98739400	Weak transcription	Fetal Thymus	thymus
34	chr7:98738400-98739600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:98738400-98740200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:98738600-98739400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:98738600-98739400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:98738600-98739400	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:98738600-98739600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:98738600-98739600	Flanking Active TSS	Osteobl	bone
41	chr7:98738600-98739800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr7:98738600-98740000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr7:98738600-98740000	Flanking Active TSS	NH-A	brain
44	chr7:98738600-98740200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr7:98738600-98740200	Flanking Active TSS	Liver	Liver
46	chr7:98738600-98740400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:98738600-98740600	Enhancers	Fetal Heart	heart
48	chr7:98738600-98742000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:98738600-98742000	Active TSS	Brain Hippocampus Middle	brain
50	chr7:98738600-98742400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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