Variant report

Variant	rs3217820
Chromosome Location	chr12:4390372-4390373
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	chr12:3967810..3970791-chr12:4389057..4391827,2	MCF-7	breast:
2	chr12:4390281..4392971-chr12:4411655..4413761,2	K562	blood:

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

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

rs_ID	r²[population]
rs3217830	0.84[CEU][hapmap];0.86[CHB][hapmap];0.85[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3217840	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3217896	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs3217898	0.80[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4372527	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4384400-4390600	Weak transcription	Gastric	stomach
2	chr12:4385200-4390800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:4385200-4390800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr12:4385200-4391000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
5	chr12:4385400-4400000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
6	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
7	chr12:4385600-4390400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:4385600-4390600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:4385600-4390800	Genic enhancers	Colonic Mucosa	Colon
10	chr12:4385600-4390800	Genic enhancers	Fetal Lung	lung
11	chr12:4385600-4391000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:4385600-4391400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:4385800-4390400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:4385800-4390600	Genic enhancers	Placenta Amnion	Placenta Amnion
16	chr12:4385800-4398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:4386000-4393600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:4386000-4400000	Genic enhancers	Fetal Stomach	stomach
19	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr12:4386200-4390400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:4386200-4390800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:4386200-4393200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:4386400-4393800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:4386600-4390600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:4386600-4390800	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:4386600-4393200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:4386600-4393200	Weak transcription	Thymus	Thymus
31	chr12:4386600-4395000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:4386600-4400000	Genic enhancers	Fetal Muscle Leg	muscle
33	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:4386800-4391800	Genic enhancers	Primary T cells from cord blood	blood
35	chr12:4386800-4396200	Strong transcription	Esophagus	oesophagus
36	chr12:4387000-4395000	Strong transcription	Primary B cells from cord blood	blood
37	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:4387200-4400000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr12:4387600-4391000	Enhancers	Right Atrium	heart
41	chr12:4387600-4394200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:4387800-4392200	Strong transcription	Aorta	Aorta
43	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:4388000-4393800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:4388200-4391200	Weak transcription	Pancreas	Pancrea
47	chr12:4388200-4393200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:4388200-4393800	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr12:4388200-4394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:4388200-4396800	Strong transcription	Fetal Thymus	thymus

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