Variant report

Variant	rs73035260
Chromosome Location	chr12:4253583-4253584
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	chr12:4244497..4246706-chr12:4251170..4253999,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4765761	1.00[ASN][1000 genomes]
rs4766193	1.00[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4243600-4255200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:4246800-4257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:4250600-4255400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:4250800-4253600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:4252000-4253800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:4252400-4253800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:4252400-4254800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:4252400-4255400	Weak transcription	Spleen	Spleen
9	chr12:4252400-4262600	Weak transcription	Esophagus	oesophagus
10	chr12:4252400-4262600	Weak transcription	Lung	lung
11	chr12:4252600-4253600	Weak transcription	Placenta	Placenta
12	chr12:4252600-4253800	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:4252600-4253800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:4252600-4254000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:4252600-4254000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:4252600-4254200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:4252600-4254200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:4252600-4254800	Weak transcription	HMEC	breast
19	chr12:4252600-4255000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:4252600-4255000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:4252600-4255000	Weak transcription	NHEK	skin
22	chr12:4252600-4255200	Enhancers	GM12878-XiMat	blood
23	chr12:4252600-4255200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:4252600-4255400	Weak transcription	K562	blood
25	chr12:4252600-4256400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:4252600-4257600	Weak transcription	Colonic Mucosa	Colon
27	chr12:4252600-4257600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:4252600-4258200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:4252600-4258400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:4252600-4258400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:4252800-4254000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:4252800-4254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:4252800-4254600	Weak transcription	Primary B cells from cord blood	blood
34	chr12:4252800-4254800	Weak transcription	Fetal Thymus	thymus
35	chr12:4252800-4255200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr12:4252800-4255400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:4252800-4257400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:4252800-4258400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:4252800-4258400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr12:4253000-4256600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:4253200-4253800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr12:4253200-4254400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:4253200-4256200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:4253200-4256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:4253200-4257400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:4253400-4253800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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