Variant report

Variant	rs34147192
Chromosome Location	chr1:193071402-193071403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193051402..193053368-chr1:193070882..193073631,3	K562	blood:
2	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
3	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
4	chr1:193028409..193031041-chr1:193070333..193072234,3	MCF-7	breast:
5	chr1:193031360..193033147-chr1:193070247..193071933,2	K562	blood:
6	chr1:193071262..193074086-chr1:193134961..193136816,2	K562	blood:

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12531	1.00[EUR][1000 genomes]
rs34353394	1.00[EUR][1000 genomes]
rs35057393	1.00[EUR][1000 genomes]
rs35070966	1.00[EUR][1000 genomes]
rs35241972	1.00[EUR][1000 genomes]
rs35358794	1.00[EUR][1000 genomes]
rs35995477	1.00[EUR][1000 genomes]
rs41306225	1.00[EUR][1000 genomes]
rs41310923	1.00[EUR][1000 genomes]
rs56055376	1.00[EUR][1000 genomes]
rs56300484	1.00[EUR][1000 genomes]
rs7522932	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
2	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
3	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart
4	chr1:193052800-193072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:193053000-193072200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
7	chr1:193053400-193072000	Weak transcription	Psoas Muscle	Psoas
8	chr1:193053600-193072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:193054200-193072600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:193054200-193072600	Weak transcription	Colonic Mucosa	Colon
11	chr1:193054200-193073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:193054200-193073000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:193054400-193072600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:193054400-193072600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:193054600-193072400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:193054800-193073000	Weak transcription	Fetal Thymus	thymus
17	chr1:193055600-193071600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:193056200-193073200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:193060600-193072200	Weak transcription	HMEC	breast
20	chr1:193061200-193071800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:193063200-193072200	Strong transcription	HSMM	muscle
22	chr1:193064000-193073200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:193066000-193072600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:193066200-193073000	Weak transcription	Fetal Brain Female	brain
25	chr1:193067000-193071600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:193068800-193071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:193069000-193072400	Weak transcription	A549	lung
28	chr1:193069200-193071800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:193069200-193072200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:193069200-193072200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:193069200-193072200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:193069200-193072600	Weak transcription	Brain Anterior Caudate	brain
33	chr1:193069200-193072800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:193069200-193073000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:193069200-193073000	Weak transcription	Aorta	Aorta
36	chr1:193069200-193073400	Weak transcription	Gastric	stomach
37	chr1:193069200-193073400	Weak transcription	Pancreas	Pancrea
38	chr1:193069400-193072000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:193069400-193072400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:193069400-193072400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:193069400-193072400	Weak transcription	NHLF	lung
42	chr1:193069400-193072600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:193069400-193072600	Weak transcription	Brain Substantia Nigra	brain
44	chr1:193069400-193072600	Weak transcription	HUVEC	blood vessel
45	chr1:193069400-193072600	Weak transcription	NHEK	skin
46	chr1:193069400-193073000	Weak transcription	Ovary	ovary
47	chr1:193069400-193073000	Weak transcription	Thymus	Thymus
48	chr1:193069600-193072400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:193069600-193073000	Weak transcription	Fetal Intestine Small	intestine
50	chr1:193069600-193073000	Weak transcription	Fetal Stomach	stomach

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