Variant report

Variant	rs193119387
Chromosome Location	chr19:42396877-42396878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr19:42396578-42396962	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr19:42396658-42396969	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:42396839-42396978	A549	lung:	n/a	n/a
4	MYC	chr19:42396835-42396963	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:42394843-42397312	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:42396047-42396911	HL-60	blood:	n/a	n/a
7	POLR2A	chr19:42395548-42397057	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:42396803-42396999	MCF-7	breast:	n/a	n/a
9	POLR2A	chr19:42396757-42396998	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:42395645-42396895	K562	blood:	n/a	n/a
11	E2F6	chr19:42396634-42397120	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:42396390-42397019	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:42395855-42397014	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:42396452-42397137	K562	blood:	n/a	n/a
15	ESR1	chr19:42396683-42396952	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr19:42395575-42397103	HL-60	blood:	n/a	n/a
17	POLR2A	chr19:42396777-42397338	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:42396716-42397026	GM12878	blood:	n/a	n/a
19	ESR1	chr19:42396638-42397008	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42386993..42388717-chr19:42395011..42397502,2	K562	blood:
2	chr19:42385266..42389164-chr19:42392215..42397025,5	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF1	TF binding region
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	esv3408235	chr19:42396537-42399085	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42389200-42407200	Weak transcription	Fetal Kidney	kidney
2	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
3	chr19:42389400-42398200	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:42389400-42402000	Weak transcription	Psoas Muscle	Psoas
5	chr19:42389400-42406000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:42389400-42411400	Weak transcription	Fetal Brain Male	brain
7	chr19:42389800-42409000	Strong transcription	Fetal Stomach	stomach
8	chr19:42390800-42411200	Weak transcription	Hela-S3	cervix
9	chr19:42391400-42407400	Weak transcription	K562	blood
10	chr19:42391600-42399600	Weak transcription	HUVEC	blood vessel
11	chr19:42391600-42404600	Weak transcription	HSMM	muscle
12	chr19:42392000-42399600	Strong transcription	Lung	lung
13	chr19:42392000-42404000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:42392000-42412600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr19:42392000-42412600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:42392000-42412600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:42392200-42397400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr19:42392200-42400800	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:42392200-42401400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr19:42392200-42407600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:42392200-42408400	Strong transcription	Liver	Liver
22	chr19:42392200-42412400	Strong transcription	Fetal Muscle Leg	muscle
23	chr19:42392200-42412800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr19:42392400-42398200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:42392400-42399200	Weak transcription	Fetal Lung	lung
26	chr19:42392400-42399600	Weak transcription	Small Intestine	intestine
27	chr19:42392400-42399800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:42392400-42400400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr19:42392400-42401800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:42392400-42407600	Strong transcription	Fetal Intestine Small	intestine
31	chr19:42392400-42410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:42392400-42412400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:42392400-42413200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:42392600-42397400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:42392600-42398200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:42392600-42399800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:42392600-42400600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:42392600-42402200	Strong transcription	Adipose Nuclei	Adipose
39	chr19:42392600-42406200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:42392600-42407400	Strong transcription	Colonic Mucosa	Colon
41	chr19:42392600-42411800	Strong transcription	Placenta	Placenta
42	chr19:42392600-42413600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:42392800-42398800	Genic enhancers	Fetal Thymus	thymus
44	chr19:42392800-42400400	Strong transcription	NHEK	skin
45	chr19:42392800-42400800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr19:42392800-42401000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:42392800-42402400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:42392800-42407800	Strong transcription	Fetal Intestine Large	intestine
49	chr19:42393000-42397200	Strong transcription	Osteobl	bone
50	chr19:42393000-42397400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood

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