Variant report

Variant	rs6974246
Chromosome Location	chr7:7637253-7637254
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7636253..7637908-chr7:7651754..7653845,2	K562	blood:
2	chr7:7606627..7608636-chr7:7635277..7637792,2	K562	blood:

Variant related genes	Relation type
ENSG00000164654	Chromatin interaction
ENSG00000272894	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1013002	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1016028	0.86[EUR][1000 genomes]
rs10229961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10276434	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10807958	0.83[AMR][1000 genomes]
rs11773679	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11976831	0.86[EUR][1000 genomes]
rs11983756	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12535954	0.82[EUR][1000 genomes]
rs1978188	0.83[AMR][1000 genomes]
rs2051910	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2051912	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2051913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2051914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108063	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2108064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2108067	0.86[EUR][1000 genomes]
rs2190247	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2190248	0.86[EUR][1000 genomes]
rs2348265	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2348339	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2881890	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4380838	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720741	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4725005	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6463705	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6463706	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6946022	0.90[EUR][1000 genomes]
rs6946425	0.81[EUR][1000 genomes]
rs6948157	0.86[EUR][1000 genomes]
rs6958110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6964397	0.86[EUR][1000 genomes]
rs7384200	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7783239	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789187	0.86[EUR][1000 genomes]
rs7789287	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791344	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7796709	0.86[EUR][1000 genomes]
rs7801367	0.91[EUR][1000 genomes]
rs7805565	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7806046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7808788	0.86[EUR][1000 genomes]
rs7810367	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9640043	0.86[EUR][1000 genomes]
rs9640044	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9640045	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs972600	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	esv3448173	chr7:7636127-7638175	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
3	chr7:7607400-7648200	Weak transcription	Lung	lung
4	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:7608400-7648600	Weak transcription	NH-A	brain
8	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
9	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
10	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:7609600-7641000	Weak transcription	Spleen	Spleen
14	chr7:7609600-7642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
16	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
19	chr7:7609800-7648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
21	chr7:7610400-7640800	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:7610600-7639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:7610600-7648200	Weak transcription	Pancreas	Pancrea
24	chr7:7610600-7654400	Weak transcription	Gastric	stomach
25	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:7613000-7646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:7613200-7637600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:7613200-7637800	Weak transcription	NHDF-Ad	bronchial
29	chr7:7613200-7638600	Weak transcription	Fetal Kidney	kidney
30	chr7:7613200-7639400	Weak transcription	Fetal Brain Female	brain
31	chr7:7613200-7639800	Weak transcription	HSMMtube	muscle
32	chr7:7613400-7639000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:7613400-7639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:7614000-7648600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:7614400-7640400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr7:7617400-7649200	Weak transcription	Psoas Muscle	Psoas
37	chr7:7617800-7639200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:7621600-7639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:7621600-7639400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:7621600-7646600	Weak transcription	Brain Anterior Caudate	brain
41	chr7:7621600-7648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:7621600-7656400	Weak transcription	Aorta	Aorta
43	chr7:7622400-7639000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:7622600-7650400	Weak transcription	HUVEC	blood vessel
45	chr7:7623000-7639000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:7627400-7640000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr7:7627600-7639000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:7628400-7639000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:7628400-7639200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:7628800-7640000	Strong transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links