Variant report

Variant	rs10735397
Chromosome Location	chr12:104855192-104855193
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104852839..104855254-chr12:104863893..104866118,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10778334	0.90[EUR][1000 genomes]
rs12299738	1.00[ASN][1000 genomes]
rs1922261	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135581	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953927	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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104850800-104855800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:104852000-104855600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr12:104852200-104855400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr12:104852400-104855600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:104852800-104857400	Weak transcription	Psoas Muscle	Psoas
6	chr12:104853000-104855400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr12:104853000-104855400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr12:104853000-104855600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:104853200-104855400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:104853200-104855600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:104853200-104855600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:104853200-104856600	Weak transcription	Left Ventricle	heart
13	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:104853400-104855200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:104853400-104855400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:104853400-104855400	Enhancers	Brain Germinal Matrix	brain
17	chr12:104853400-104855400	Enhancers	Fetal Brain Male	brain
18	chr12:104853400-104856600	Weak transcription	Brain Substantia Nigra	brain
19	chr12:104853400-104862200	Weak transcription	Gastric	stomach
20	chr12:104853400-104863000	Weak transcription	Pancreas	Pancrea
21	chr12:104853400-104863200	Weak transcription	Aorta	Aorta
22	chr12:104853600-104855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:104853600-104855200	Enhancers	Lung	lung
24	chr12:104853600-104855400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:104853600-104855400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:104853600-104855400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:104853600-104855600	Enhancers	HUVEC	blood vessel
28	chr12:104853600-104856400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:104853600-104856400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:104853600-104856600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:104853600-104856800	Weak transcription	Fetal Stomach	stomach
32	chr12:104853600-104858200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:104853600-104858800	Weak transcription	Brain Angular Gyrus	brain
34	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:104853800-104855200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:104853800-104855400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr12:104853800-104855600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:104853800-104855600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr12:104853800-104855600	Enhancers	HMEC	breast
40	chr12:104853800-104856600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:104853800-104856800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:104854000-104855200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr12:104854000-104855400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:104854000-104856600	Weak transcription	A549	lung
46	chr12:104854000-104857600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:104854200-104855200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:104854200-104855200	Enhancers	Right Atrium	heart
49	chr12:104854200-104856200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:104854200-104856600	Weak transcription	NHEK	skin

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