Variant report

Variant	rs192196840
Chromosome Location	chr19:39646923-39646924
allele	C/G
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	chr19:39646857-39647061	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39645610..39647317-chr19:39897484..39899400,2	MCF-7	breast:
2	chr19:39644386..39647038-chr19:39665325..39668037,2	MCF-7	breast:
3	chr19:39615259..39630637-chr19:39640467..39653924,38	MCF-7	breast:

Variant related genes	Relation type
PAK4	TF binding region
ENSG00000128016	Chromatin interaction
ENSG00000130669	Chromatin interaction
ENSG00000269172	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv3403825	chr19:39646612-39650810	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 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	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr19:39624000-39647000	Weak transcription	NHLF	lung
3	chr19:39630800-39651000	Weak transcription	NHDF-Ad	bronchial
4	chr19:39631000-39660000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:39635400-39647000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:39635600-39647000	Weak transcription	NH-A	brain
7	chr19:39635600-39647400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:39636000-39647400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:39636000-39668200	Weak transcription	Primary B cells from cord blood	blood
10	chr19:39636400-39665600	Weak transcription	Aorta	Aorta
11	chr19:39636800-39650800	Weak transcription	HUVEC	blood vessel
12	chr19:39637000-39653600	Weak transcription	Brain Germinal Matrix	brain
13	chr19:39637200-39647000	Weak transcription	Small Intestine	intestine
14	chr19:39637400-39647400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:39637400-39660800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:39638000-39661400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:39638200-39648600	Weak transcription	Brain Angular Gyrus	brain
18	chr19:39640000-39647600	Weak transcription	HSMMtube	muscle
19	chr19:39640000-39648400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:39640000-39672600	Weak transcription	GM12878-XiMat	blood
21	chr19:39640200-39647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:39640200-39647400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:39640200-39660000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:39641200-39649200	Weak transcription	Fetal Brain Female	brain
25	chr19:39642000-39649600	Enhancers	Placenta	Placenta
26	chr19:39642200-39647400	Weak transcription	Right Atrium	heart
27	chr19:39642400-39647000	Weak transcription	HSMM	muscle
28	chr19:39642400-39649000	Weak transcription	Thymus	Thymus
29	chr19:39643400-39648200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:39644200-39652200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr19:39644400-39647400	Enhancers	Liver	Liver
32	chr19:39644400-39648800	Enhancers	Gastric	stomach
33	chr19:39644400-39649600	Enhancers	Pancreas	Pancrea
34	chr19:39644400-39651800	Genic enhancers	Fetal Intestine Small	intestine
35	chr19:39644600-39647200	Enhancers	Colonic Mucosa	Colon
36	chr19:39644600-39647200	Enhancers	HMEC	breast
37	chr19:39644600-39647400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr19:39644600-39647800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr19:39644600-39647800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:39644600-39648400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr19:39644600-39648600	Enhancers	Duodenum Mucosa	Duodenum
42	chr19:39644600-39648600	Enhancers	Fetal Heart	heart
43	chr19:39644600-39649000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:39644600-39649400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr19:39644600-39649400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:39644600-39649400	Enhancers	Lung	lung
47	chr19:39644600-39649600	Enhancers	K562	blood
48	chr19:39644600-39649800	Enhancers	Fetal Intestine Large	intestine
49	chr19:39644600-39652200	Enhancers	Stomach Mucosa	stomach
50	chr19:39644800-39647000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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