Variant report

Variant	rs12738128
Chromosome Location	chr1:160615258-160615259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160613879..160616416-chr1:160625225..160627443,2	K562	blood:
2	chr1:160609926..160611594-chr1:160614666..160616773,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12139271	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34129092	1.00[ASN][1000 genomes]
rs34942450	1.00[ASN][1000 genomes]
rs36062794	1.00[ASN][1000 genomes]
rs71628183	1.00[ASN][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	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr1:160603000-160615400	Weak transcription	Gastric	stomach
2	chr1:160605800-160616800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr1:160605800-160617400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:160609400-160616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:160609800-160615600	Weak transcription	Pancreas	Pancrea
6	chr1:160609800-160616200	Weak transcription	Spleen	Spleen
7	chr1:160610400-160618000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:160610800-160615800	Weak transcription	K562	blood
9	chr1:160611400-160615800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:160611800-160616000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:160612000-160615800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:160612200-160615600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:160612200-160616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:160612200-160617600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:160612400-160615600	Weak transcription	Dnd41	blood
16	chr1:160612400-160616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:160612600-160615600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:160613000-160615400	Weak transcription	Small Intestine	intestine
19	chr1:160613200-160618600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:160613400-160615800	Active TSS	Fetal Thymus	thymus
21	chr1:160613800-160616600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr1:160614000-160615400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr1:160614000-160617400	Active TSS	Duodenum Mucosa	Duodenum
24	chr1:160614200-160615600	Transcr. at gene 5' and 3'	Thymus	Thymus
25	chr1:160614200-160616200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:160614400-160617200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:160614400-160617400	Active TSS	Colonic Mucosa	Colon
28	chr1:160614600-160616800	Active TSS	Esophagus	oesophagus
29	chr1:160614600-160617000	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:160614600-160617400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:160614600-160617600	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr1:160614800-160616200	Active TSS	Primary T cells fromperipheralblood	blood
33	chr1:160614800-160616200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:160614800-160617000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:160614800-160617200	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr1:160614800-160617800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:160615000-160617600	Enhancers	Fetal Intestine Large	intestine
38	chr1:160615000-160617800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr1:160615200-160615400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr1:160615200-160615400	Enhancers	Lung	lung
41	chr1:160615200-160616200	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:160615200-160616800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:160615200-160616800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:160615200-160617000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:160615200-160617000	Enhancers	Fetal Intestine Small	intestine
46	chr1:160615200-160617000	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr1:160615200-160617200	Active TSS	Rectal Smooth Muscle	rectum
48	chr1:160615200-160617400	Enhancers	Left Ventricle	heart
49	chr1:160615200-160617600	Enhancers	Primary hematopoietic stem cells	blood

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