Variant report

Variant	rs56060230
Chromosome Location	chr6:144149177-144149178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144147084..144149993-chr6:144155010..144156596,2	K562	blood:
2	chr6:144144070..144146018-chr6:144148350..144151006,2	K562	blood:
3	chr6:144148603..144150255-chr6:144152799..144154779,2	MCF-7	breast:
4	chr6:144149084..144151621-chr6:144157302..144159967,3	K562	blood:
5	chr6:144147310..144149467-chr6:144150399..144152146,2	K562	blood:

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

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

rs_ID	r²[population]
rs1061690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11966700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11969396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17614442	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41285027	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55688549	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780510	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55911614	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55971519	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1034894	chr6:144148566-144170036	Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144122200-144155000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:144122200-144163600	Weak transcription	Colonic Mucosa	Colon
3	chr6:144122200-144163600	Weak transcription	Fetal Kidney	kidney
4	chr6:144123600-144150000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:144125600-144163600	Weak transcription	Psoas Muscle	Psoas
6	chr6:144125800-144163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:144128800-144163600	Weak transcription	HSMMtube	muscle
8	chr6:144129200-144150000	Weak transcription	Primary T cells from cord blood	blood
9	chr6:144129200-144152800	Weak transcription	Primary B cells from cord blood	blood
10	chr6:144129200-144159200	Weak transcription	HepG2	liver
11	chr6:144129200-144163600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:144129200-144163600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:144129600-144163600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:144130000-144149600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:144130000-144150800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:144130200-144150200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:144130200-144150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:144130200-144163400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:144130200-144163800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:144130400-144159800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:144133800-144149200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:144134000-144150400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:144134000-144156800	Weak transcription	Pancreas	Pancrea
24	chr6:144134000-144163800	Weak transcription	Aorta	Aorta
25	chr6:144134000-144163800	Weak transcription	Esophagus	oesophagus
26	chr6:144134000-144164000	Weak transcription	Gastric	stomach
27	chr6:144136600-144163600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:144140800-144163400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:144141400-144151400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:144141600-144158800	Weak transcription	Fetal Intestine Large	intestine
31	chr6:144141800-144152000	Weak transcription	Spleen	Spleen
32	chr6:144141800-144152400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:144142000-144149600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:144142200-144149400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:144142200-144164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:144142400-144149800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:144142800-144152800	Weak transcription	K562	blood
38	chr6:144143000-144163400	Weak transcription	Fetal Stomach	stomach
39	chr6:144143600-144149800	Weak transcription	Fetal Intestine Small	intestine
40	chr6:144143800-144155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:144144200-144149200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:144144200-144153200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:144144200-144158200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:144144200-144160000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:144144200-144164000	Weak transcription	Lung	lung
46	chr6:144144800-144150600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:144144800-144150800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr6:144145000-144152400	Weak transcription	Ovary	ovary
49	chr6:144145000-144153200	Strong transcription	Placenta	Placenta
50	chr6:144145200-144149600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links