Variant report

Variant	rs34888508
Chromosome Location	chr12:118640616-118640617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118630878..118633154-chr12:118640207..118642397,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12820035	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35078534	0.80[EUR][1000 genomes]
rs71452644	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118620200-118656400	Weak transcription	HepG2	liver
2	chr12:118621000-118682600	Weak transcription	A549	lung
3	chr12:118622400-118643800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:118622400-118643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:118622400-118646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:118622600-118642000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:118623600-118642600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr12:118625600-118641600	Weak transcription	Stomach Mucosa	stomach
9	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
10	chr12:118628800-118650000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:118628800-118673000	Weak transcription	NH-A	brain
13	chr12:118629800-118652400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:118630800-118650000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:118631200-118642800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:118631200-118643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:118631400-118642400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:118631400-118642600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:118634800-118642400	Strong transcription	Primary B cells from cord blood	blood
20	chr12:118635400-118641600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:118636800-118658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:118637000-118640800	Weak transcription	Hela-S3	cervix
24	chr12:118637000-118652200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:118637200-118640800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:118637200-118642400	Weak transcription	Right Ventricle	heart
27	chr12:118637200-118647800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:118637200-118648000	Weak transcription	Brain Substantia Nigra	brain
29	chr12:118637200-118654400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:118637400-118641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:118637400-118649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:118637400-118653600	Weak transcription	Ovary	ovary
35	chr12:118637400-118658200	Weak transcription	Brain Anterior Caudate	brain
36	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
39	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
40	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
41	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
42	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
43	chr12:118637600-118647400	Weak transcription	Thymus	Thymus
44	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:118637800-118650000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:118638600-118650200	Weak transcription	HUVEC	blood vessel
47	chr12:118638600-118651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:118638800-118641800	Weak transcription	Fetal Stomach	stomach
49	chr12:118638800-118646000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:118638800-118651400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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