Variant report

Variant	rs12079635
Chromosome Location	chr1:220168884-220168885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220165101..220168556-chr1:220168858..220170933,3	K562	blood:
2	chr1:220168435..220171336-chr1:220322060..220324695,2	K562	blood:
3	chr1:220164810..220167759-chr1:220168424..220170636,2	K562	blood:
4	chr1:220009813..220011470-chr1:220168662..220170226,2	K562	blood:
5	chr1:220166855..220169233-chr1:220184126..220185704,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11118488	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811749	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060231	1.00[AFR][1000 genomes]
rs12072662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080935	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090303	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5030751	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6690280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73084894	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
5	chr1:220142600-220169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
7	chr1:220147200-220169400	Weak transcription	Fetal Heart	heart
8	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:220153600-220169200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:220154200-220169200	Weak transcription	Fetal Brain Male	brain
11	chr1:220154400-220169200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:220154400-220169200	Weak transcription	Fetal Lung	lung
13	chr1:220154600-220169000	Weak transcription	Small Intestine	intestine
14	chr1:220154600-220169200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:220156800-220169800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:220157200-220177200	Weak transcription	Esophagus	oesophagus
17	chr1:220158200-220177200	Weak transcription	Right Ventricle	heart
18	chr1:220159800-220169200	Weak transcription	Colonic Mucosa	Colon
19	chr1:220160800-220169200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:220160800-220174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:220161000-220169200	Weak transcription	Psoas Muscle	Psoas
22	chr1:220161000-220169200	Weak transcription	NHLF	lung
23	chr1:220161200-220169200	Weak transcription	Left Ventricle	heart
24	chr1:220162000-220169200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:220162000-220169200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:220162000-220175600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:220162200-220169000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:220162200-220169400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:220162800-220169600	Weak transcription	HUVEC	blood vessel
30	chr1:220164600-220169400	Weak transcription	Hela-S3	cervix
31	chr1:220164800-220173800	Strong transcription	HSMM	muscle
32	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:220165200-220169000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:220165200-220173000	Strong transcription	Primary T cells from cord blood	blood
35	chr1:220165400-220170600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:220166000-220170600	Strong transcription	Brain Germinal Matrix	brain
38	chr1:220166000-220189200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:220166200-220170000	Strong transcription	Fetal Stomach	stomach
41	chr1:220166200-220173000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:220166200-220174600	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr1:220166200-220175200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:220166200-220178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:220166200-220178200	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:220166200-220184400	Strong transcription	Fetal Thymus	thymus
47	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links