Variant report

Variant	rs17884776
Chromosome Location	chr19:36635239-36635240
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36635091-36635434	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:36635063-36636171	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:36635217-36635452	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:36634992-36636210	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr19:36635084-36635449	K562	blood:	n/a	n/a
6	POLR2A	chr19:36635238-36635403	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:36635116-36635422	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:36635204-36635757	K562	blood:	n/a	n/a
9	POLR2A	chr19:36635082-36635561	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:36635197-36635985	A549	lung:	n/a	n/a
11	POLR2A	chr19:36635112-36635966	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36618864..36621054-chr19:36633673..36635614,2	MCF-7	breast:

Variant related genes	Relation type
CAPNS1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1049339	1.00[CHD][hapmap]
rs11669405	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs17882184	1.00[CHD][hapmap]
rs2075472	1.00[LWK][hapmap]
rs7245508	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36632400-36635400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:36632600-36641800	Strong transcription	Fetal Thymus	thymus
3	chr19:36632800-36635400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:36632800-36636800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:36632800-36638400	Strong transcription	K562	blood
6	chr19:36632800-36641000	Strong transcription	Fetal Lung	lung
7	chr19:36632800-36641000	Weak transcription	Right Atrium	heart
8	chr19:36632800-36641200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr19:36632800-36641400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:36632800-36641400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:36632800-36641600	Strong transcription	NHLF	lung
12	chr19:36632800-36642000	Strong transcription	Fetal Intestine Small	intestine
13	chr19:36632800-36642200	Strong transcription	Brain Substantia Nigra	brain
14	chr19:36632800-36643000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:36632800-36644400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:36632800-36645600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:36633000-36635600	Weak transcription	Small Intestine	intestine
18	chr19:36633000-36635800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:36633000-36637200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:36633000-36637400	Strong transcription	Fetal Stomach	stomach
21	chr19:36633000-36638200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:36633000-36638200	Strong transcription	GM12878-XiMat	blood
23	chr19:36633000-36638800	Strong transcription	NHEK	skin
24	chr19:36633000-36639800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:36633000-36640600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr19:36633000-36640800	Strong transcription	Placenta	Placenta
27	chr19:36633000-36640800	Strong transcription	HSMM	muscle
28	chr19:36633000-36641000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:36633000-36641000	Weak transcription	Fetal Heart	heart
30	chr19:36633000-36641600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:36633000-36641600	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr19:36633000-36641800	Strong transcription	Adipose Nuclei	Adipose
33	chr19:36633000-36641800	Strong transcription	Brain Anterior Caudate	brain
34	chr19:36633000-36642200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:36633000-36642200	Strong transcription	Fetal Intestine Large	intestine
36	chr19:36633000-36642200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr19:36633000-36642200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr19:36633000-36642400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr19:36633000-36642400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:36633000-36642400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:36633000-36642400	Strong transcription	Dnd41	blood
42	chr19:36633000-36642600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:36633000-36642600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:36633000-36642600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:36633000-36643000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:36633000-36643200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:36633000-36644800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr19:36633000-36645600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:36633000-36645600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:36633000-36645600	Strong transcription	A549	lung

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