Variant report

Variant	rs9496970
Chromosome Location	chr6:144751218-144751219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144746502..144749178-chr6:144749821..144752410,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs36000065	1.00[EUR][1000 genomes]
rs4364502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57126147	1.00[EUR][1000 genomes]
rs57360253	1.00[EUR][1000 genomes]
rs57902986	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58152229	1.00[EUR][1000 genomes]
rs60896767	1.00[EUR][1000 genomes]
rs61620395	1.00[EUR][1000 genomes]
rs6570629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6570631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6929203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73597078	1.00[EUR][1000 genomes]
rs73597094	1.00[EUR][1000 genomes]
rs73598970	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598995	1.00[EUR][1000 genomes]
rs7740206	1.00[EUR][1000 genomes]
rs7747024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9321975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9496969	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9496973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
2	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv886739	chr6:144719765-144796516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144720000-144758200	Weak transcription	Fetal Intestine Small	intestine
2	chr6:144729800-144761400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:144733200-144756800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:144737000-144752200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:144737800-144755400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:144737800-144756800	Weak transcription	Right Ventricle	heart
7	chr6:144738000-144753000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:144738000-144755400	Weak transcription	HMEC	breast
9	chr6:144738000-144755400	Weak transcription	NHEK	skin
10	chr6:144738400-144757000	Weak transcription	Fetal Heart	heart
11	chr6:144739000-144756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:144739200-144755400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:144739200-144755600	Weak transcription	Small Intestine	intestine
14	chr6:144739200-144755600	Weak transcription	A549	lung
15	chr6:144740600-144758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:144740800-144761200	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:144740800-144761400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:144740800-144787600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:144741000-144756800	Weak transcription	Right Atrium	heart
20	chr6:144741000-144801800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:144741200-144760800	Weak transcription	Fetal Brain Male	brain
22	chr6:144742800-144753600	Strong transcription	Primary T cells from cord blood	blood
23	chr6:144742800-144753800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr6:144742800-144761200	Weak transcription	Colonic Mucosa	Colon
25	chr6:144743000-144751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:144743000-144753600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:144743000-144753600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:144743000-144753800	Strong transcription	Primary B cells from cord blood	blood
29	chr6:144743000-144753800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:144743000-144753800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:144743000-144753800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:144743000-144753800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:144743000-144753800	Strong transcription	Fetal Thymus	thymus
34	chr6:144743000-144753800	Strong transcription	Dnd41	blood
35	chr6:144743000-144753800	Strong transcription	GM12878-XiMat	blood
36	chr6:144743000-144753800	Strong transcription	HepG2	liver
37	chr6:144743000-144753800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:144743000-144780200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr6:144743200-144753800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:144743200-144753800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr6:144743600-144753600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:144744000-144751600	Strong transcription	HUVEC	blood vessel
43	chr6:144744000-144753800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:144744400-144759000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:144744400-144761400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:144744600-144753800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:144744600-144756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:144744600-144758600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr6:144744600-144758800	Weak transcription	Gastric	stomach
50	chr6:144744800-144752200	Weak transcription	Stomach Mucosa	stomach

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