Variant report

Variant	rs71356009
Chromosome Location	chr19:37097449-37097450
allele	C/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	POLR2A	chr19:37097398-37097559	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37094753..37097505-chr19:37099237..37101505,2	K562	blood:

Variant related genes	Relation type
ZNF382	TF binding region
ZNF529	TF binding region
ENSG00000161298	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10406248	1.00[ASN][1000 genomes]
rs10409123	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10409422	0.85[AFR][1000 genomes]
rs10413833	1.00[ASN][1000 genomes]
rs10419469	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10421461	0.84[AFR][1000 genomes]
rs10424565	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10427118	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11878498	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12710046	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972864	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973571	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977285	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977486	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34519098	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71356010	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105266	0.81[EUR][1000 genomes]
rs8182626	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	esv3434386	chr19:37073454-37114509	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37096600-37097600	Flanking Active TSS	Dnd41	blood
2	chr19:37096800-37098600	Weak transcription	Ovary	ovary
3	chr19:37096800-37100400	Weak transcription	Psoas Muscle	Psoas
4	chr19:37096800-37100600	Weak transcription	Fetal Intestine Large	intestine
5	chr19:37096800-37104000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:37096800-37110000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:37097000-37097600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:37097000-37097600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:37097000-37097600	Enhancers	Fetal Muscle Leg	muscle
10	chr19:37097000-37098000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:37097000-37098400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:37097000-37098600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:37097000-37098600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr19:37097000-37099000	Weak transcription	Adipose Nuclei	Adipose
15	chr19:37097000-37099400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:37097000-37099400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:37097000-37099600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:37097000-37099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:37097000-37099600	Weak transcription	Placenta	Placenta
20	chr19:37097000-37099600	Weak transcription	Left Ventricle	heart
21	chr19:37097000-37099800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:37097000-37099800	Weak transcription	HSMM	muscle
23	chr19:37097000-37100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:37097000-37100400	Weak transcription	Right Ventricle	heart
25	chr19:37097000-37100400	Weak transcription	HSMMtube	muscle
26	chr19:37097000-37100600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:37097000-37100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:37097000-37100800	Weak transcription	Aorta	Aorta
29	chr19:37097000-37100800	Weak transcription	Spleen	Spleen
30	chr19:37097000-37102400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:37097000-37102400	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:37097000-37104400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:37097000-37106000	Weak transcription	Fetal Thymus	thymus
34	chr19:37097000-37106800	Weak transcription	Stomach Mucosa	stomach
35	chr19:37097000-37107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:37097000-37107000	Weak transcription	Small Intestine	intestine
37	chr19:37097000-37107400	Weak transcription	HUVEC	blood vessel
38	chr19:37097000-37107800	Weak transcription	Gastric	stomach
39	chr19:37097000-37112600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:37097200-37097600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:37097200-37097600	Enhancers	Fetal Brain Male	brain
42	chr19:37097200-37098000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:37097200-37098000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr19:37097200-37098000	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:37097200-37098000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr19:37097200-37098200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:37097200-37098200	Weak transcription	Primary B cells from cord blood	blood
48	chr19:37097200-37098200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:37097200-37098200	Weak transcription	Brain Germinal Matrix	brain
50	chr19:37097200-37098200	Weak transcription	Brain Inferior Temporal Lobe	brain

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