Variant report

Variant	rs12142428
Chromosome Location	chr1:197890160-197890161
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197889791..197892957-chr1:197895831..197898506,3	K562	blood:
2	chr1:197880188..197882077-chr1:197888467..197890885,2	K562	blood:
3	chr1:197890068..197892957-chr1:197897006..197899178,2	K562	blood:

Variant related genes	Relation type
ENSG00000143355	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10754238	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801633	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10922335	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10922337	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12029707	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12131587	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17644383	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61829143	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6667492	0.83[EUR][1000 genomes]
rs6699938	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197884600-197891000	Bivalent Enhancer	Fetal Thymus	thymus
2	chr1:197887400-197890400	Bivalent Enhancer	Fetal Intestine Small	intestine
3	chr1:197887400-197890600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
4	chr1:197887400-197890800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:197887600-197890800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:197887800-197890600	Bivalent Enhancer	Brain Germinal Matrix	brain
7	chr1:197887800-197890800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr1:197888200-197890600	Bivalent Enhancer	Liver	Liver
9	chr1:197888600-197891000	Bivalent Enhancer	Fetal Heart	heart
10	chr1:197888800-197890800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:197888800-197890800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:197888800-197890800	Enhancers	Pancreas	Pancrea
13	chr1:197888800-197891000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr1:197889000-197890400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:197889000-197890800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr1:197889000-197890800	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr1:197889000-197890800	Enhancers	Spleen	Spleen
18	chr1:197889200-197890400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:197889200-197890400	Bivalent Enhancer	Fetal Intestine Large	intestine
20	chr1:197889200-197890800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
21	chr1:197889200-197890800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:197889200-197890800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:197889200-197891000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:197889200-197891000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr1:197889200-197891200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:197889400-197890200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr1:197889400-197890200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:197889400-197890200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
29	chr1:197889400-197890200	Bivalent Enhancer	Primary T cells from cord blood	blood
30	chr1:197889400-197890400	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr1:197889400-197890800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr1:197889400-197890800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr1:197889400-197893000	Weak transcription	Right Atrium	heart
34	chr1:197889600-197890200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:197889600-197890400	Bivalent Enhancer	Fetal Lung	lung
36	chr1:197889800-197890200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr1:197889800-197890200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr1:197889800-197890200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
39	chr1:197889800-197890400	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr1:197889800-197890400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr1:197889800-197890400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:197889800-197890400	Weak transcription	Ovary	ovary
43	chr1:197889800-197890600	Bivalent Enhancer	Fetal Stomach	stomach
44	chr1:197889800-197890800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr1:197890000-197890200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr1:197890000-197890200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr1:197890000-197890200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:197890000-197890400	Weak transcription	Gastric	stomach
49	chr1:197890000-197891200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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