Variant report

Variant	rs669402
Chromosome Location	chr1:70720856-70720857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70714159..70717525-chr1:70719321..70722644,5	K562	blood:
2	chr1:70719944..70722820-chr1:70729283..70730801,2	K562	blood:
3	chr1:70714127..70716625-chr1:70718344..70722644,5	K562	blood:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11209591	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv871898	chr1:70681486-70723347	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70700600-70738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70708600-70733800	Weak transcription	Pancreas	Pancrea
4	chr1:70710800-70721200	Weak transcription	Gastric	stomach
5	chr1:70710800-70723400	Weak transcription	Lung	lung
6	chr1:70710800-70756200	Weak transcription	Aorta	Aorta
7	chr1:70711200-70733000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:70711800-70733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:70712200-70723400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
11	chr1:70714200-70756000	Weak transcription	Colonic Mucosa	Colon
12	chr1:70715600-70733600	Weak transcription	Thymus	Thymus
13	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
14	chr1:70715800-70722600	Weak transcription	Fetal Stomach	stomach
15	chr1:70715800-70731200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:70715800-70747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:70715800-70756200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
20	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:70716600-70739000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:70716800-70727800	Weak transcription	Fetal Lung	lung
23	chr1:70716800-70730600	Weak transcription	Left Ventricle	heart
24	chr1:70716800-70732800	Weak transcription	Psoas Muscle	Psoas
25	chr1:70716800-70733400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:70716800-70733600	Weak transcription	Ovary	ovary
27	chr1:70716800-70737800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
30	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
31	chr1:70717000-70722200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:70717000-70733600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:70717000-70736400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:70717000-70740200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:70717000-70746200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:70717000-70755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:70717000-70759000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:70717200-70722200	Weak transcription	Fetal Heart	heart
39	chr1:70717200-70731600	Weak transcription	Fetal Kidney	kidney
40	chr1:70717200-70759000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:70717600-70727600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:70717600-70728200	Weak transcription	HepG2	liver
43	chr1:70717600-70728400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:70717600-70730200	Weak transcription	K562	blood
45	chr1:70717600-70732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:70717600-70733000	Weak transcription	Fetal Intestine Large	intestine
47	chr1:70717600-70733200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:70717600-70736000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:70717600-70746000	Weak transcription	Fetal Brain Male	brain
50	chr1:70717600-70752200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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