Variant report

Variant	rs964132
Chromosome Location	chr19:19243175-19243176
allele	C/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	KAP1	chr19:19242847-19243201	U2OS	brain:	n/a	n/a
2	KAP1	chr19:19242782-19243334	HEK293	kidney:	n/a	n/a
3	POLR2A	chr19:19242603-19243342	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:19242812-19243375	SK-N-MC	brain:	n/a	n/a
5	SETDB1	chr19:19242767-19243201	U2OS	brain:	n/a	n/a
6	POLR2A	chr19:19242855-19243237	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19229446..19234006-chr19:19241302..19251526,15	K562	blood:
2	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:
3	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:

Variant related genes	Relation type
TMEM161A	TF binding region
ENSG00000064545	Chromatin interaction
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10420479	1.00[TSI][hapmap]
rs16995885	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs3826993	0.85[CHB][hapmap]
rs3826994	0.94[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.89[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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
5	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
6	chr19:19221800-19243200	Weak transcription	A549	lung
7	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:19230800-19248400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:19231000-19245400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:19231200-19248000	Weak transcription	Fetal Brain Male	brain
11	chr19:19231800-19245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:19232200-19245200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr19:19232200-19245400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:19232600-19248000	Weak transcription	NHLF	lung
15	chr19:19233200-19245600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr19:19234600-19248000	Weak transcription	Primary B cells from cord blood	blood
17	chr19:19234800-19247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:19235000-19247800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:19235200-19245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:19241400-19245000	Weak transcription	K562	blood
21	chr19:19241400-19245200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:19242400-19244200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr19:19242600-19243400	ZNF genes & repeats	HepG2	liver
24	chr19:19242600-19243800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:19242600-19244000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:19242600-19244200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:19242600-19244200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr19:19242600-19244200	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr19:19242600-19244200	ZNF genes & repeats	Fetal Stomach	stomach
30	chr19:19242800-19243200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
31	chr19:19242800-19243200	ZNF genes & repeats	Fetal Kidney	kidney
32	chr19:19242800-19243200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr19:19242800-19243200	ZNF genes & repeats	Osteobl	bone
34	chr19:19242800-19243400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:19242800-19243400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
36	chr19:19242800-19243400	ZNF genes & repeats	Liver	Liver
37	chr19:19242800-19243400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr19:19242800-19243400	ZNF genes & repeats	Fetal Brain Female	brain
39	chr19:19242800-19243400	ZNF genes & repeats	Fetal Lung	lung
40	chr19:19242800-19243400	ZNF genes & repeats	Right Ventricle	heart
41	chr19:19242800-19243400	ZNF genes & repeats	Dnd41	blood
42	chr19:19242800-19243600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:19242800-19243600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr19:19242800-19243600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr19:19242800-19243600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:19242800-19243600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:19242800-19243600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:19242800-19243600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:19242800-19243600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:19242800-19243600	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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