Variant report

Variant	rs2002318
Chromosome Location	chr19:19738506-19738507
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19730445..19732435-chr19:19735094..19738509,3	K562	blood:
2	chr19:19736867..19738953-chr19:19762486..19765452,2	K562	blood:
3	chr19:19622555..19628571-chr19:19737113..19740295,6	MCF-7	breast:
4	chr19:19728345..19731839-chr19:19736250..19740547,12	MCF-7	breast:
5	chr19:19699149..19708161-chr19:19735507..19742255,11	MCF-7	breast:
6	chr19:19215004..19217931-chr19:19737020..19738746,2	K562	blood:
7	chr19:19716730..19718451-chr19:19737365..19740401,3	MCF-7	breast:
8	chr19:19717080..19720260-chr19:19736721..19739619,3	MCF-7	breast:
9	chr19:19689040..19691188-chr19:19737339..19740827,3	MCF-7	breast:
10	chr19:19641380..19649124-chr19:19737025..19742358,12	MCF-7	breast:
11	chr19:19672101..19675728-chr19:19736936..19740582,5	MCF-7	breast:
12	chr19:19674538..19676076-chr19:19738291..19740001,2	MCF-7	breast:
13	chr19:19648360..19650075-chr19:19737805..19740650,3	MCF-7	breast:
14	chr19:19736821..19742043-chr19:19751528..19755876,8	MCF-7	breast:
15	chr19:19737308..19740984-chr19:19746364..19748680,3	MCF-7	breast:
16	chr19:19728765..19732435-chr19:19733111..19738509,7	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GMIP-1	chr19:19738314-19738778	NONHSAT063076

No data

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000267178	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000089639	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000105717	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000259242	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16982921	1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2304097	1.00[MEX][hapmap]
rs35844778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3794992	1.00[JPT][hapmap]

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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19729800-19738600	Weak transcription	Right Atrium	heart
2	chr19:19729800-19744400	Weak transcription	HSMMtube	muscle
3	chr19:19730200-19740200	Weak transcription	Dnd41	blood
4	chr19:19735000-19740200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:19735000-19753200	Weak transcription	K562	blood
6	chr19:19735600-19740200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:19736800-19738600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr19:19737000-19738800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr19:19737200-19738600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:19737200-19738800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr19:19737600-19738600	Enhancers	Lung	lung
12	chr19:19737800-19738600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:19737800-19738600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:19737800-19738600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:19737800-19738600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:19737800-19738600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr19:19737800-19738600	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr19:19737800-19738600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr19:19737800-19740000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr19:19738000-19738600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr19:19738000-19738600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr19:19738000-19738600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr19:19738000-19738600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr19:19738000-19738600	Flanking Active TSS	Pancreas	Pancrea
25	chr19:19738000-19738600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr19:19738000-19738600	Flanking Active TSS	Stomach Mucosa	stomach
27	chr19:19738000-19738600	Enhancers	Spleen	Spleen
28	chr19:19738000-19738800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr19:19738000-19738800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:19738000-19738800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:19738000-19738800	Flanking Active TSS	Fetal Thymus	thymus
32	chr19:19738000-19738800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr19:19738000-19739000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:19738000-19739800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr19:19738000-19740000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:19738000-19740000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:19738000-19740000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:19738200-19738600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:19738200-19738600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:19738200-19738600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
41	chr19:19738200-19738600	Flanking Active TSS	Esophagus	oesophagus
42	chr19:19738200-19738600	Active TSS	Fetal Brain Female	brain
43	chr19:19738200-19738600	Enhancers	Small Intestine	intestine
44	chr19:19738200-19738600	Flanking Active TSS	Thymus	Thymus
45	chr19:19738200-19738800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr19:19738200-19738800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:19738200-19738800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr19:19738200-19738800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:19738200-19738800	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr19:19738200-19738800	Flanking Active TSS	Placenta	Placenta

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