Variant report

Variant	rs34996966
Chromosome Location	chr12:122734427-122734428
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122733009..122734782-chr12:122736094..122737816,2	K562	blood:

Variant related genes	Relation type
ENSG00000139719	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12579871	1.00[EUR][1000 genomes]
rs35944862	1.00[EUR][1000 genomes]
rs55759231	1.00[EUR][1000 genomes]
rs55778375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56038133	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56207858	1.00[EUR][1000 genomes]
rs56219573	1.00[EUR][1000 genomes]
rs56241657	1.00[EUR][1000 genomes]
rs56981632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58226649	1.00[EUR][1000 genomes]
rs59315366	1.00[EUR][1000 genomes]
rs59553747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59743902	1.00[EUR][1000 genomes]
rs60258475	1.00[EUR][1000 genomes]
rs60317410	1.00[EUR][1000 genomes]
rs60623525	1.00[EUR][1000 genomes]
rs61096099	1.00[EUR][1000 genomes]
rs61954384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488916	1.00[EUR][1000 genomes]
rs6488917	1.00[EUR][1000 genomes]
rs71082959	1.00[EUR][1000 genomes]
rs7955389	1.00[EUR][1000 genomes]
rs7970522	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122711800-122734800	Weak transcription	Fetal Brain Male	brain
2	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
4	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
8	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
9	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:122719600-122735000	Weak transcription	NHLF	lung
11	chr12:122720400-122734800	Weak transcription	NHEK	skin
12	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:122721600-122750400	Weak transcription	Small Intestine	intestine
15	chr12:122722000-122741000	Weak transcription	Brain Substantia Nigra	brain
16	chr12:122722000-122750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122723000-122735800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:122726800-122734800	Weak transcription	Aorta	Aorta
19	chr12:122729200-122735400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:122729400-122742400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:122729600-122741200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:122729800-122734800	Weak transcription	Primary B cells from cord blood	blood
23	chr12:122730600-122742800	Weak transcription	GM12878-XiMat	blood
24	chr12:122730600-122749600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:122730800-122741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:122730800-122748800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:122731000-122736200	Strong transcription	Primary T cells from cord blood	blood
28	chr12:122731000-122746800	Strong transcription	Fetal Intestine Small	intestine
29	chr12:122731200-122737800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr12:122731200-122748200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:122731400-122748600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:122731600-122736000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:122731800-122734600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:122731800-122735600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:122731800-122735800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:122731800-122736000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:122731800-122736200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:122731800-122736200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:122731800-122748200	Strong transcription	Fetal Intestine Large	intestine
40	chr12:122731800-122748600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:122731800-122748800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:122732000-122735200	Strong transcription	Dnd41	blood
43	chr12:122732000-122735800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:122732000-122736200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:122732000-122736200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:122732000-122736200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:122732000-122736200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:122732200-122735000	Strong transcription	Brain Germinal Matrix	brain
49	chr12:122732200-122735600	Strong transcription	Liver	Liver
50	chr12:122732200-122735600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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