Variant report

Variant	rs7249432
Chromosome Location	chr19:19108096-19108097
allele	A/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	EGR1	chr19:19107886-19108302	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:19107489-19108373	K562	blood:	n/a	n/a
3	ZNF143	chr19:19107988-19108192	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:19107822-19108178	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:19108082-19108497	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:19107880-19108203	K562	blood:	n/a	n/a
7	POLR2A	chr19:19107777-19108191	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF263	chr19:19107652-19108311	HEK293-T-REx	kidney:	n/a	chr19:19107735-19107744 chr19:19108145-19108166 chr19:19108105-19108126

No.	Distal block	Cell Line	Cell type
1	chr19:19106780..19109822-chr19:19115561..19117365,3	MCF-7	breast:
2	chr19:19106312..19108383-chr19:19109496..19112233,3	MCF-7	breast:
3	chr19:19029943..19032280-chr19:19106563..19108404,2	K562	blood:

Variant related genes	Relation type
SUGP2	TF binding region
ENSG00000105671	Chromatin interaction
ENSG00000105669	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1004079	0.92[AFR][1000 genomes]
rs11085249	0.81[AFR][1000 genomes]
rs16995852	0.92[AFR][1000 genomes]
rs17373432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2313736	0.83[AFR][1000 genomes]
rs34540303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808179	0.83[AFR][1000 genomes]
rs59094007	0.92[AFR][1000 genomes]
rs61230396	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv2435	chr19:19077432-19122579	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19098600-19109800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:19100200-19117400	Strong transcription	Fetal Intestine Small	intestine
3	chr19:19100600-19122800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:19101000-19109400	Strong transcription	Lung	lung
5	chr19:19101000-19109800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:19101000-19114000	Weak transcription	Small Intestine	intestine
7	chr19:19101000-19125600	Strong transcription	Thymus	Thymus
8	chr19:19101000-19133000	Strong transcription	Fetal Thymus	thymus
9	chr19:19101200-19108200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr19:19101200-19108400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:19101200-19108400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:19101200-19109400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:19101200-19109800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:19101200-19109800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:19101200-19110400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:19101200-19126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:19101200-19130400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr19:19101200-19140200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr19:19101400-19109800	Strong transcription	Liver	Liver
20	chr19:19101400-19113000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:19101400-19130400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr19:19101400-19142000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr19:19101600-19109400	Strong transcription	Adipose Nuclei	Adipose
24	chr19:19101600-19130400	Strong transcription	Primary T cells from cord blood	blood
25	chr19:19101600-19130400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:19101800-19109600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:19101800-19109600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:19101800-19109600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:19102000-19110000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:19102000-19113000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr19:19102000-19130200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:19102000-19132000	Strong transcription	Dnd41	blood
33	chr19:19102200-19108400	Strong transcription	Aorta	Aorta
34	chr19:19102200-19110400	Strong transcription	Gastric	stomach
35	chr19:19102400-19109800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr19:19102400-19111000	Strong transcription	A549	lung
37	chr19:19102600-19122600	Weak transcription	Fetal Heart	heart
38	chr19:19102800-19108400	Strong transcription	Right Ventricle	heart
39	chr19:19102800-19109400	Strong transcription	Spleen	Spleen
40	chr19:19103000-19108200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:19103200-19130200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:19103600-19108200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:19103600-19109600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:19103600-19123600	Strong transcription	HepG2	liver
45	chr19:19104000-19114000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr19:19105000-19109800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:19105200-19110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:19105400-19108800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:19105400-19108800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:19105400-19110600	Weak transcription	Psoas Muscle	Psoas

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