Variant report

Variant	rs72993497
Chromosome Location	chr19:19244033-19244034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19243402-19244073	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:19243572-19244042	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19143649..19145293-chr19:19243998..19245856,2	MCF-7	breast:
2	chr19:19214932..19216511-chr19:19243941..19245659,2	K562	blood:
3	chr19:19241159..19242979-chr19:19243469..19246036,2	K562	blood:
4	chr19:19229446..19234006-chr19:19241302..19251526,15	K562	blood:
5	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:
6	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:
7	chr19:19243871..19246499-chr19:19246795..19249258,3	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM161A	TF binding region
ENSG00000181035	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000064607	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72993462	0.81[EUR][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:106 , 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	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:19230800-19248400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:19231000-19245400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr19:19231200-19248000	Weak transcription	Fetal Brain Male	brain
10	chr19:19231800-19245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:19232200-19245200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:19232200-19245400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:19232600-19248000	Weak transcription	NHLF	lung
14	chr19:19233200-19245600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:19234600-19248000	Weak transcription	Primary B cells from cord blood	blood
16	chr19:19234800-19247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:19235000-19247800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:19235200-19245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:19241400-19245000	Weak transcription	K562	blood
20	chr19:19241400-19245200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:19242400-19244200	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr19:19242600-19244200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:19242600-19244200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr19:19242600-19244200	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr19:19242600-19244200	ZNF genes & repeats	Fetal Stomach	stomach
26	chr19:19242800-19244200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr19:19242800-19244200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:19242800-19244200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:19242800-19244200	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr19:19242800-19244200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
31	chr19:19243000-19244200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:19243000-19244200	ZNF genes & repeats	Placenta	Placenta
33	chr19:19243200-19244200	ZNF genes & repeats	A549	lung
34	chr19:19243200-19245200	Weak transcription	Fetal Kidney	kidney
35	chr19:19243200-19245600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr19:19243200-19248000	Weak transcription	Osteobl	bone
37	chr19:19243400-19244200	Strong transcription	Dnd41	blood
38	chr19:19243400-19245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:19243400-19245600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr19:19243400-19247800	Weak transcription	Right Ventricle	heart
41	chr19:19243400-19247800	Weak transcription	Stomach Mucosa	stomach
42	chr19:19243400-19248200	Weak transcription	Fetal Brain Female	brain
43	chr19:19243400-19248200	Weak transcription	Fetal Lung	lung
44	chr19:19243600-19244200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:19243600-19244200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:19243600-19244400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:19243600-19244400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:19243600-19245200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:19243600-19245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:19243600-19245600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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