Variant report

Variant	rs3751319
Chromosome Location	chr12:104853067-104853068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104831707..104833873-chr12:104852450..104855166,2	K562	blood:
2	chr12:104852839..104855254-chr12:104863893..104866118,2	K562	blood:
3	chr12:104852129..104854253-chr12:104856135..104858649,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFYB-2	chr12:104852873-104854222	ENSG00000245335

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10778334	1.00[ASN][1000 genomes]
rs12299738	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1922261	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs3751318	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs3751321	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812797	0.91[ASN][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	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104849600-104853200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr12:104849600-104853200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:104849800-104853400	Active TSS	Aorta	Aorta
4	chr12:104849800-104853600	Active TSS	Right Atrium	heart
5	chr12:104850000-104853400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr12:104850000-104853400	Active TSS	Fetal Kidney	kidney
7	chr12:104850000-104853400	Active TSS	Gastric	stomach
8	chr12:104850000-104853400	Active TSS	Pancreas	Pancrea
9	chr12:104850000-104853600	Active TSS	NHDF-Ad	bronchial
10	chr12:104850000-104853800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:104850200-104853200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:104850200-104853200	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr12:104850200-104853200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:104850200-104853200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr12:104850200-104853200	Active TSS	Rectal Smooth Muscle	rectum
16	chr12:104850200-104853200	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr12:104850200-104853400	Active TSS	Primary monocytes fromperipheralblood	blood
18	chr12:104850200-104853400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:104850200-104853400	Active TSS	Lung	lung
20	chr12:104850200-104853400	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr12:104850200-104853400	Active TSS	Small Intestine	intestine
22	chr12:104850200-104853600	Active TSS	Brain Anterior Caudate	brain
23	chr12:104850200-104853800	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr12:104850200-104854400	Active TSS	Thymus	Thymus
25	chr12:104850200-104854600	Active TSS	GM12878-XiMat	blood
26	chr12:104850400-104853400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:104850400-104853400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:104850400-104853600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:104850400-104853800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:104850600-104853600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
31	chr12:104850800-104853600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:104850800-104855800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr12:104851000-104853400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr12:104851800-104853400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:104851800-104853400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr12:104852000-104855600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr12:104852200-104853200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:104852200-104855400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr12:104852400-104853200	Active TSS	Right Ventricle	heart
40	chr12:104852400-104853400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:104852400-104853400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr12:104852400-104853400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr12:104852400-104853400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr12:104852400-104853400	Enhancers	Fetal Heart	heart
45	chr12:104852400-104853400	Flanking Active TSS	NHEK	skin
46	chr12:104852400-104853600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr12:104852400-104853600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:104852400-104853600	Flanking Active TSS	HUVEC	blood vessel
49	chr12:104852400-104853600	Flanking Active TSS	NH-A	brain
50	chr12:104852400-104854000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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