Variant report

Variant	rs12984401
Chromosome Location	chr19:37027070-37027071
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37020966..37023894-chr19:37025965..37028005,2	K562	blood:
2	chr19:37026011..37027946-chr19:37031327..37033771,2	K562	blood:
3	chr19:37019843..37021429-chr19:37026140..37028875,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10419469	0.85[CEU][hapmap]
rs10421461	1.00[CEU][hapmap]
rs10421862	1.00[CEU][hapmap]
rs10424565	1.00[CEU][hapmap]
rs11882116	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12972864	0.85[CEU][hapmap]
rs12978182	1.00[EUR][1000 genomes]
rs12979738	0.91[EUR][1000 genomes]
rs34141679	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34142892	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35434557	1.00[EUR][1000 genomes]
rs35659382	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7245606	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7260233	0.82[YRI][hapmap]
rs8103435	0.88[AFR][1000 genomes]
rs8105266	0.85[CEU][hapmap]
rs8110468	0.85[AMR][1000 genomes]
rs9676533	1.00[CEU][hapmap]
rs9676627	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9989712	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
9	nsv1056134	chr19:37022039-37056943	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37020400-37034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37020600-37027600	Weak transcription	Hela-S3	cervix
3	chr19:37021400-37061600	ZNF genes & repeats	Liver	Liver
4	chr19:37021600-37030000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:37022800-37061200	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:37023000-37061800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:37023200-37031800	ZNF genes & repeats	A549	lung
8	chr19:37023200-37032600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:37023200-37048400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:37023200-37060200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:37023200-37061600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:37023400-37030000	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr19:37023400-37030200	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr19:37023400-37048800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:37023400-37060000	ZNF genes & repeats	Fetal Lung	lung
16	chr19:37023400-37062000	ZNF genes & repeats	Fetal Brain Female	brain
17	chr19:37023400-37063000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr19:37023600-37061000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:37023800-37033000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:37023800-37057800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:37023800-37058200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:37023800-37058200	ZNF genes & repeats	Dnd41	blood
23	chr19:37023800-37061600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:37024000-37030600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr19:37025400-37030200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr19:37025400-37052400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr19:37025600-37027200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:37025600-37027600	Strong transcription	NHDF-Ad	bronchial
29	chr19:37025600-37027800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:37025600-37028000	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr19:37025600-37029600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr19:37025600-37030600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr19:37025600-37032800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
34	chr19:37025600-37049000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr19:37025600-37053000	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr19:37025600-37061000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr19:37025600-37062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:37025800-37027200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:37025800-37027800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr19:37025800-37027800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:37025800-37027800	ZNF genes & repeats	Aorta	Aorta
42	chr19:37025800-37027800	ZNF genes & repeats	Pancreas	Pancrea
43	chr19:37025800-37027800	ZNF genes & repeats	HSMM	muscle
44	chr19:37025800-37028000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:37025800-37028000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:37025800-37029200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:37025800-37029800	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr19:37025800-37030200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:37025800-37030200	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr19:37025800-37030200	ZNF genes & repeats	Ovary	ovary

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