Variant report

Variant	rs8111422
Chromosome Location	chr19:36502441-36502442
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36502436-36502461	K562	blood:	n/a	n/a
2	POLR2A	chr19:36501900-36502464	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:36502330-36502670	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36487282..36490058-chr19:36500834..36502670,2	K562	blood:
2	chr19:36497884..36507784-chr19:36542079..36547610,17	MCF-7	breast:
3	chr19:36494473..36501836-chr19:36501930..36505739,14	K562	blood:
4	chr19:36502189..36508386-chr19:36540645..36546835,9	MCF-7	breast:
5	chr19:36502180..36504188-chr19:36532444..36535158,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267698	TF binding region
SYNE4	TF binding region
ENSG00000161277	Chromatin interaction
ENSG00000181392	Chromatin interaction
ENSG00000075702	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10412081	0.82[EUR][1000 genomes]
rs57255566	0.82[EUR][1000 genomes]
rs58991245	0.82[EUR][1000 genomes]
rs73607766	0.85[EUR][1000 genomes]
rs73607776	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73607778	0.85[EUR][1000 genomes]
rs8112690	0.85[EUR][1000 genomes]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv1000212	chr19:36494643-36508508	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36487200-36504200	Weak transcription	HSMMtube	muscle
2	chr19:36488000-36504000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:36488400-36504200	Weak transcription	Primary B cells from cord blood	blood
4	chr19:36488600-36503800	Weak transcription	GM12878-XiMat	blood
5	chr19:36488800-36504000	Weak transcription	Hela-S3	cervix
6	chr19:36492600-36503600	Weak transcription	Dnd41	blood
7	chr19:36492600-36503800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:36492800-36503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:36494400-36504400	Weak transcription	Aorta	Aorta
10	chr19:36495600-36503800	Weak transcription	K562	blood
11	chr19:36500000-36504200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:36500400-36504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:36500400-36504200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:36500600-36504200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:36500600-36504200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:36500800-36503800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr19:36500800-36503800	Weak transcription	Brain Substantia Nigra	brain
18	chr19:36500800-36503800	Weak transcription	Thymus	Thymus
19	chr19:36500800-36504000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr19:36500800-36504000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:36500800-36504000	Weak transcription	Lung	lung
22	chr19:36500800-36504000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:36500800-36504200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:36500800-36504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:36500800-36504200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:36500800-36504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:36500800-36504200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:36500800-36504200	Weak transcription	Fetal Heart	heart
29	chr19:36500800-36504200	Weak transcription	Fetal Intestine Small	intestine
30	chr19:36500800-36504200	Weak transcription	Psoas Muscle	Psoas
31	chr19:36500800-36504200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr19:36500800-36504200	Weak transcription	Right Atrium	heart
33	chr19:36500800-36504200	Weak transcription	HMEC	breast
34	chr19:36500800-36504200	Weak transcription	NHLF	lung
35	chr19:36501000-36503600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:36501000-36503800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:36501000-36503800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:36501000-36503800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:36501000-36503800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:36501000-36503800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:36501000-36503800	Weak transcription	Liver	Liver
42	chr19:36501000-36504000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:36501000-36504000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:36501000-36504000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:36501000-36504000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:36501000-36504000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:36501000-36504000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:36501000-36504000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:36501000-36504000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:36501000-36504000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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