Variant report

Variant	rs12330678
Chromosome Location	chr3:179429420-179429421
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179280406..179283122-chr3:179427442..179429884,2	K562	blood:

Variant related genes	Relation type
ENSG00000136518	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13323044	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13326401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28495971	0.91[AFR][1000 genomes]
rs6780889	1.00[CEU][hapmap]
rs9852681	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9867929	0.91[AFR][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	nsv4140	chr3:179383961-179429704	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179384800-179443800	Weak transcription	Esophagus	oesophagus
2	chr3:179385000-179439200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:179385000-179448400	Weak transcription	Fetal Brain Male	brain
4	chr3:179391000-179444000	Weak transcription	Pancreas	Pancrea
5	chr3:179391000-179452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:179391400-179439200	Weak transcription	NHEK	skin
7	chr3:179397800-179439200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:179399000-179434000	Weak transcription	A549	lung
9	chr3:179399000-179459800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:179406200-179503000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:179406600-179449400	Weak transcription	Spleen	Spleen
12	chr3:179407000-179431200	Weak transcription	NH-A	brain
13	chr3:179407200-179430800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:179407800-179439200	Weak transcription	Brain Angular Gyrus	brain
15	chr3:179408200-179439800	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:179408600-179439400	Weak transcription	Fetal Thymus	thymus
17	chr3:179416200-179448400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:179419000-179439200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:179419200-179430000	Strong transcription	Primary T cells from cord blood	blood
20	chr3:179419400-179439000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:179419600-179444000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:179420200-179478800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:179422400-179439200	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:179422800-179460600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:179423000-179436800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:179423000-179439200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:179423400-179448200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:179423400-179448400	Weak transcription	Gastric	stomach
29	chr3:179423800-179430000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:179424000-179429800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:179424000-179474800	Weak transcription	Fetal Kidney	kidney
32	chr3:179424400-179487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:179424600-179429800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:179424600-179431000	Weak transcription	NHDF-Ad	bronchial
35	chr3:179424800-179429600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:179424800-179430000	Strong transcription	Dnd41	blood
37	chr3:179425000-179430000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:179425000-179430000	Strong transcription	Liver	Liver
39	chr3:179425200-179448400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:179425400-179430000	Strong transcription	HSMM	muscle
41	chr3:179425400-179431200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:179425400-179431600	Weak transcription	Right Atrium	heart
43	chr3:179425400-179439200	Weak transcription	Right Ventricle	heart
44	chr3:179425600-179431200	Weak transcription	Psoas Muscle	Psoas
45	chr3:179425600-179435000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:179425600-179439000	Weak transcription	Fetal Brain Female	brain
47	chr3:179425600-179443800	Weak transcription	Aorta	Aorta
48	chr3:179425600-179446600	Weak transcription	Fetal Intestine Large	intestine
49	chr3:179425800-179447000	Weak transcription	Placenta	Placenta
50	chr3:179426800-179429600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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