Variant report

Variant	rs10416732
Chromosome Location	chr19:37407938-37407939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:37406713-37408204	IMR90	lung:	n/a	n/a
2	KAP1	chr19:37406868-37407941	HEK293	kidney:	n/a	n/a
3	MXI1	chr19:37406664-37408735	IMR90	lung:	n/a	n/a
4	ZNF263	chr19:37406773-37408231	HEK293-T-REx	kidney:	n/a	n/a
5	MXI1	chr19:37406516-37408652	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37407889-37407939	Caco-2	colon:	n/a
2	chr19:37407889-37407939	H1-hESC	embryonic stem cell:	embryo
3	chr19:37407889-37407939	HL-60	blood:	n/a
4	chr19:37407889-37407939	PrEC	prostate:	n/a
5	chr19:37407889-37407939	NHBE	bronchial:	n/a
6	chr19:37407889-37407939	HAEpiC	amniotic membrane:	n/a
7	chr19:37407889-37407939	GM12878	blood:	n/a
8	chr19:37407889-37407939	T-47D	breast:	n/a
9	chr19:37407889-37407939	ECC-1	luminal epithelium:	n/a
10	chr19:37407889-37407939	AG04449	skin:	fetal
11	chr19:37407889-37407939	RPTEC	kidney:	n/a
12	chr19:37407889-37407939	NB4	blood:	n/a
13	chr19:37407889-37407939	AG09309	skin:	n/a
14	chr19:37407889-37407939	NT2-D1	testis:	n/a
15	chr19:37407889-37407939	HEEpiC	esophagus:	n/a
16	chr19:37407889-37407939	NHDF-neo	bronchial:	n/a
17	chr19:37407889-37407939	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:37407889-37407939	ovcar-3	ovarian:	n/a
19	chr19:37407889-37407939	MCF10A-Er-Src	breast:	n/a
20	chr19:37407889-37407939	Hepatocyte	liver:	n/a
21	chr19:37407889-37407939	PANC-1	pancreas:	n/a
22	chr19:37407889-37407939	HIPEpiC	eye:	n/a
23	chr19:37407889-37407939	MCF-7	breast:	n/a
24	chr19:37407889-37407939	PFSK-1	brain:	n/a
25	chr19:37407889-37407939	SAEC	small airway:	n/a
26	chr19:37407889-37407939	ProgFib	skin:	n/a
27	chr19:37407889-37407939	AG10803	skin:	n/a
28	chr19:37407889-37407939	LNCaP	prostate:	n/a
29	chr19:37407889-37407939	GM19239	blood:	n/a
30	chr19:37407889-37407939	HRPEpiC	eye:	n/a
31	chr19:37407889-37407939	HCT-116	colon:	n/a
32	chr19:37407889-37407939	AoSMC	blood vessel:	n/a
33	chr19:37407889-37407939	U87	brain:	n/a
34	chr19:37407889-37407939	SK-N-SH_RA	brain:	n/a
35	chr19:37407889-37407939	HRE	kidney:	n/a
36	chr19:37407889-37407939	BJ	skin:	n/a
37	chr19:37407889-37407939	HNPCEpiC	eye:	n/a
38	chr19:37407889-37407939	CMK	blood:	n/a
39	chr19:37407889-37407939	GM06990	blood:	n/a
40	chr19:37407889-37407939	HEK293	kidney:	embryo
41	chr19:37407889-37407939	AG04450	lung:	fetal
42	chr19:37407889-37407939	HCF	heart:	n/a
43	chr19:37407889-37407939	BE2_C	brain:	n/a
44	chr19:37407889-37407939	SKMC	muscle:	n/a
45	chr19:37407889-37407939	HCM	heart:	n/a
46	chr19:37407889-37407939	A549	lung:	n/a
47	chr19:37407889-37407939	HCPEpiC	choroid plexus:	n/a
48	chr19:37407889-37407939	K562	blood:	n/a
49	chr19:37407889-37407939	SK-N-SH	brain:	n/a
50	chr19:37407889-37407939	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37341916..37344029-chr19:37407089..37408811,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF829	TF binding region
ZNF829	CpG island
ENSG00000251247	Chromatin interaction

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

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

rs_ID	r²[population]
rs10401212	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2385470	0.98[ASN][1000 genomes]
rs3955478	0.98[ASN][1000 genomes]
rs4805190	0.89[EUR][1000 genomes]
rs497144	0.85[ASN][1000 genomes]
rs62115611	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112709	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	14 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37404600-37409800	ZNF genes & repeats	A549	lung
2	chr19:37405600-37410000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr19:37405800-37408000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37406000-37408000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:37406000-37408000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:37406000-37408000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:37406000-37408000	Active TSS	Rectal Smooth Muscle	rectum
8	chr19:37406000-37408200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr19:37406000-37408200	Active TSS	Fetal Kidney	kidney
10	chr19:37406000-37408200	Active TSS	NHLF	lung
11	chr19:37406000-37408400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:37406200-37408000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:37406200-37408000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:37406200-37408000	Active TSS	Pancreas	Pancrea
15	chr19:37406200-37408200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:37406200-37408200	Active TSS	HSMMtube	muscle
17	chr19:37406200-37408400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr19:37406200-37408400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:37406200-37408400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr19:37406200-37408600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:37406200-37408600	Active TSS	Muscle Satellite Cultured Cells	--
22	chr19:37406400-37408000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:37406400-37408000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:37406400-37408000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:37406400-37408000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:37406400-37408000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:37406400-37408000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:37406400-37408000	Active TSS	Liver	Liver
29	chr19:37406400-37408000	Active TSS	Brain Angular Gyrus	brain
30	chr19:37406400-37408000	Active TSS	Brain Hippocampus Middle	brain
31	chr19:37406400-37408000	Active TSS	Brain Substantia Nigra	brain
32	chr19:37406400-37408000	Active TSS	Esophagus	oesophagus
33	chr19:37406400-37408000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr19:37406400-37408000	Active TSS	Gastric	stomach
35	chr19:37406400-37408000	Active TSS	Left Ventricle	heart
36	chr19:37406400-37408000	Active TSS	Right Ventricle	heart
37	chr19:37406400-37408000	Active TSS	Thymus	Thymus
38	chr19:37406400-37408000	Active TSS	NHEK	skin
39	chr19:37406400-37408000	Active TSS	Osteobl	bone
40	chr19:37406400-37408200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:37406400-37408200	Active TSS	Colonic Mucosa	Colon
42	chr19:37406400-37408200	Active TSS	Fetal Intestine Large	intestine
43	chr19:37406400-37408200	Active TSS	Ovary	ovary
44	chr19:37406400-37408200	Active TSS	HMEC	breast
45	chr19:37406400-37408400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr19:37406400-37408400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:37406400-37408400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr19:37406400-37408400	Active TSS	Fetal Muscle Trunk	muscle
49	chr19:37406400-37408400	Active TSS	Psoas Muscle	Psoas
50	chr19:37406400-37408400	Active TSS	Right Atrium	heart

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