Variant report

Variant	rs11669502
Chromosome Location	chr19:37743296-37743297
allele	C/T
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	GABPA	chr19:37742115-37743535	MCF-7	breast:	n/a	n/a
2	GABPA	chr19:37742156-37743304	HL-60	blood:	n/a	n/a
3	MXI1	chr19:37741979-37743794	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000226686	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11666699	1.00[ASN][1000 genomes]
rs11667497	1.00[ASN][1000 genomes]
rs11667866	1.00[ASN][1000 genomes]
rs11668217	1.00[ASN][1000 genomes]
rs11671057	1.00[ASN][1000 genomes]
rs11671358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671510	1.00[ASN][1000 genomes]
rs11672064	1.00[ASN][1000 genomes]
rs11672330	1.00[ASN][1000 genomes]
rs16973488	1.00[ASN][1000 genomes]
rs1915489	1.00[AMR][1000 genomes]
rs35895160	1.00[ASN][1000 genomes]
rs56822639	1.00[ASN][1000 genomes]
rs6508730	1.00[ASN][1000 genomes]
rs6508731	1.00[ASN][1000 genomes]
rs7245717	1.00[ASN][1000 genomes]
rs7246762	1.00[ASN][1000 genomes]
rs7257174	1.00[ASN][1000 genomes]
rs8103087	1.00[ASN][1000 genomes]
rs8104809	1.00[ASN][1000 genomes]
rs8108658	1.00[ASN][1000 genomes]
rs8108739	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv9717	chr19:37721760-37796698	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv960834	chr19:37742831-37749967	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
2	chr19:37725000-37743600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37741200-37743800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr19:37741200-37744000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37741200-37745600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:37741400-37743400	Active TSS	Brain Anterior Caudate	brain
7	chr19:37741400-37743400	Active TSS	Brain Cingulate Gyrus	brain
8	chr19:37741400-37743400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr19:37741400-37743400	Active TSS	Fetal Lung	lung
10	chr19:37741400-37743600	Active TSS	Right Atrium	heart
11	chr19:37741400-37743800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr19:37741400-37743800	Active TSS	Brain Substantia Nigra	brain
13	chr19:37741400-37743800	Active TSS	Fetal Kidney	kidney
14	chr19:37741600-37743400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:37741600-37743600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr19:37741600-37743600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:37741600-37743600	ZNF genes & repeats	HSMMtube	muscle
18	chr19:37741600-37749200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr19:37741800-37743400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
20	chr19:37741800-37743400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:37741800-37743400	Active TSS	Brain Hippocampus Middle	brain
22	chr19:37741800-37743400	Active TSS	Fetal Brain Female	brain
23	chr19:37741800-37743600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:37741800-37743600	Active TSS	NHDF-Ad	bronchial
25	chr19:37741800-37744000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:37742000-37743400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:37742000-37743400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:37742000-37743400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:37742000-37743400	Active TSS	Fetal Muscle Leg	muscle
30	chr19:37742000-37743400	Active TSS	Fetal Stomach	stomach
31	chr19:37742000-37743400	Active TSS	Right Ventricle	heart
32	chr19:37742000-37743600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr19:37742000-37743600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr19:37742000-37743600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:37742000-37743600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:37742000-37743600	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr19:37742000-37743600	ZNF genes & repeats	HMEC	breast
38	chr19:37742000-37743600	Active TSS	NH-A	brain
39	chr19:37742000-37743600	Active TSS	NHLF	lung
40	chr19:37742000-37743600	Active TSS	Osteobl	bone
41	chr19:37742000-37743800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:37742000-37743800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:37742000-37743800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:37742000-37743800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:37742000-37743800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:37742000-37743800	Active TSS	Colon Smooth Muscle	Colon
47	chr19:37742000-37743800	Active TSS	Rectal Smooth Muscle	rectum
48	chr19:37742000-37743800	ZNF genes & repeats	NHEK	skin
49	chr19:37742000-37744000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr19:37742000-37744000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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