Variant report

Variant	rs556114443
Chromosome Location	chr19:52811361-52811362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52805604..52808306-chr19:52809399..52811799,3	K562	blood:
2	chr19:52810214..52812761-chr19:52813239..52815974,2	K562	blood:
3	chr19:52804812..52807578-chr19:52808701..52812079,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv912299	chr19:52795985-52832830	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv458742	chr19:52808986-52866171	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
10	nsv580008	chr19:52808986-52866171	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
11	esv3394228	chr19:52810905-52816835	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52801200-52813200	ZNF genes & repeats	A549	lung
2	chr19:52801800-52827200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:52801800-52829200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:52802000-52813200	ZNF genes & repeats	Primary B cells from cord blood	blood
5	chr19:52802000-52826400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:52802000-52830000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:52802200-52813000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
8	chr19:52802200-52827400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:52802200-52828400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:52802200-52829200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr19:52802400-52814000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:52802400-52828800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr19:52802400-52841800	ZNF genes & repeats	Liver	Liver
14	chr19:52802600-52826800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr19:52802600-52827600	ZNF genes & repeats	Dnd41	blood
16	chr19:52803200-52812400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:52803400-52813200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
18	chr19:52803800-52816200	ZNF genes & repeats	Small Intestine	intestine
19	chr19:52803800-52829000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr19:52803800-52829200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr19:52804000-52813000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:52804000-52814000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:52804400-52827200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr19:52805000-52819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr19:52805200-52829000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr19:52805400-52813200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr19:52805400-52829200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:52805600-52813800	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr19:52805600-52827800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:52805800-52813800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
31	chr19:52806000-52813200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
32	chr19:52806800-52813000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr19:52807000-52813200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr19:52807400-52813200	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr19:52807400-52813600	ZNF genes & repeats	Lung	lung
36	chr19:52807400-52824400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr19:52807400-52824800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:52807800-52813600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:52807800-52814000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:52807800-52814000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
41	chr19:52807800-52816200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr19:52807800-52827000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr19:52808000-52812600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:52808000-52813200	ZNF genes & repeats	Spleen	Spleen
45	chr19:52808000-52813800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:52808000-52824200	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr19:52808200-52813800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr19:52808200-52813800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr19:52808200-52813800	ZNF genes & repeats	Fetal Brain Female	brain
50	chr19:52808200-52813800	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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