Variant report

Variant	rs10410980
Chromosome Location	chr19:37266789-37266790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37266484-37266983	MCF-7	breast:	n/a	n/a
2	TAF1	chr19:37266574-37266914	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr19:37266566-37266936	NT2-D1	testis:	n/a	n/a
4	POLR2A	chr19:37266732-37266822	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:37266527-37266803	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:37266445-37266889	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:37266551-37266799	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:37266457-37266834	GM12892	blood:	n/a	n/a
9	MAX	chr19:37266695-37266965	K562	blood:	n/a	n/a
10	YY1	chr19:37266691-37266927	K562	blood:	n/a	n/a
11	YY1	chr19:37266551-37266858	A549	lung:	n/a	n/a
12	POLR2A	chr19:37266493-37266810	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37266748-37266798	GM12878	blood:	n/a
2	chr19:37266748-37266798	ProgFib	skin:	n/a
3	chr19:37266748-37266798	Hela-S3	cervix:	n/a
4	chr19:37266748-37266798	U87	brain:	n/a
5	chr19:37266748-37266798	HMEC	breast:	n/a
6	chr19:37266748-37266798	GM06990	blood:	n/a
7	chr19:37266748-37266798	SK-N-SH	brain:	n/a
8	chr19:37266748-37266798	MCF-7	breast:	n/a
9	chr19:37266748-37266798	HCPEpiC	choroid plexus:	n/a
10	chr19:37266748-37266798	HL-60	blood:	n/a
11	chr19:37266748-37266798	HRCEpiC	kidney:	n/a
12	chr19:37266748-37266798	H1-hESC	embryonic stem cell:	embryo
13	chr19:37266748-37266798	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:37266748-37266798	SK-N-MC	brain:	n/a
15	chr19:37266748-37266798	PANC-1	pancreas:	n/a
16	chr19:37266748-37266798	SK-N-SH_RA	brain:	n/a
17	chr19:37266748-37266798	K562	blood:	n/a
18	chr19:37266748-37266798	BJ	skin:	n/a
19	chr19:37266748-37266798	AG04450	lung:	fetal
20	chr19:37266748-37266798	BE2_C	brain:	n/a
21	chr19:37266748-37266798	HRE	kidney:	n/a
22	chr19:37266748-37266798	HIPEpiC	eye:	n/a
23	chr19:37266748-37266798	T-47D	breast:	n/a
24	chr19:37266748-37266798	NB4	blood:	n/a
25	chr19:37266748-37266798	A549	lung:	n/a
26	chr19:37266748-37266798	CMK	blood:	n/a
27	chr19:37266748-37266798	MCF10A-Er-Src	breast:	n/a
28	chr19:37266748-37266798	ovcar-3	ovarian:	n/a
29	chr19:37266748-37266798	AoSMC	blood vessel:	n/a
30	chr19:37266748-37266798	SKMC	muscle:	n/a
31	chr19:37266748-37266798	HCF	heart:	n/a
32	chr19:37266748-37266798	Jurkat	blood:	n/a
33	chr19:37266748-37266798	IMR90	lung:	fetal
34	chr19:37266748-37266798	AG10803	skin:	n/a
35	chr19:37266748-37266798	HCT-116	colon:	n/a
36	chr19:37266748-37266798	HEEpiC	esophagus:	n/a
37	chr19:37266748-37266798	HRPEpiC	eye:	n/a
38	chr19:37266748-37266798	NHDF-neo	bronchial:	n/a
39	chr19:37266748-37266798	RPTEC	kidney:	n/a
40	chr19:37266748-37266798	AG04449	skin:	fetal
41	chr19:37266748-37266798	NH-A	brain:	n/a
42	chr19:37266748-37266798	HUVEC	blood vessel:	n/a
43	chr19:37266748-37266798	NT2-D1	testis:	n/a
44	chr19:37266748-37266798	ECC-1	luminal epithelium:	n/a
45	chr19:37266748-37266798	GM12892	blood:	n/a
46	chr19:37266748-37266798	GM19239	blood:	n/a
47	chr19:37266748-37266798	HAEpiC	amniotic membrane:	n/a
48	chr19:37266748-37266798	HCM	heart:	n/a
49	chr19:37266748-37266798	PFSK-1	brain:	n/a
50	chr19:37266748-37266798	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37177766..37179816-chr19:37265277..37267800,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF850	TF binding region
ZNF850	CpG island
ENSG00000189042	Chromatin interaction
ENSG00000225975	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10420413	0.96[EUR][1000 genomes]
rs1148387	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1148393	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148400	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1148401	0.89[EUR][1000 genomes]
rs1227560	0.88[EUR][1000 genomes]
rs1227796	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1227797	0.95[EUR][1000 genomes]
rs1227800	0.94[EUR][1000 genomes]
rs1227802	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1227809	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1227811	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1227812	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1227816	0.81[EUR][1000 genomes]
rs1227818	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1227824	0.89[EUR][1000 genomes]
rs1227826	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1227863	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1227864	0.95[EUR][1000 genomes]
rs1227865	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1227867	0.97[EUR][1000 genomes]
rs12982205	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12986045	0.87[ASN][1000 genomes]
rs12986257	0.87[ASN][1000 genomes]
rs1302670	0.89[EUR][1000 genomes]
rs1726717	0.86[EUR][1000 genomes]
rs2245366	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2445877	0.95[EUR][1000 genomes]
rs2445878	0.90[EUR][1000 genomes]
rs2695086	0.97[EUR][1000 genomes]
rs28372636	0.97[EUR][1000 genomes]
rs34629452	0.85[ASN][1000 genomes]
rs35127048	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35265584	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35313661	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35815897	0.87[ASN][1000 genomes]
rs35967992	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3745775	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4092391	0.87[ASN][1000 genomes]
rs4806350	0.87[ASN][1000 genomes]
rs4806351	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4806353	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs542847	0.87[EUR][1000 genomes]
rs57193089	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58381108	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62114321	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62114322	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7258563	0.87[ASN][1000 genomes]
rs73037149	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8106994	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	esv1829205	chr19:37252164-37285622	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
15	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
16	esv1827511	chr19:37261867-37283594	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37264600-37274800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:37264800-37267600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37265000-37267400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr19:37265000-37267800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:37265000-37268400	ZNF genes & repeats	Liver	Liver
6	chr19:37265200-37267400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr19:37265200-37267400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr19:37265200-37268600	ZNF genes & repeats	Dnd41	blood
9	chr19:37265600-37267600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr19:37265600-37270200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:37266000-37267000	ZNF genes & repeats	Fetal Thymus	thymus
12	chr19:37266200-37267000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:37266200-37267000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:37266200-37267000	Active TSS	HUVEC	blood vessel
15	chr19:37266200-37267200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:37266200-37267200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:37266200-37267200	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr19:37266200-37267200	Active TSS	Brain Angular Gyrus	brain
19	chr19:37266200-37267200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:37266200-37267200	ZNF genes & repeats	NHEK	skin
21	chr19:37266200-37267400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:37266200-37267400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr19:37266200-37267400	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr19:37266200-37267400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr19:37266200-37267600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr19:37266200-37267800	Active TSS	Brain Substantia Nigra	brain
27	chr19:37266200-37268000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:37266400-37266800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr19:37266400-37266800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr19:37266400-37266800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:37266400-37266800	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr19:37266400-37267000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr19:37266400-37267000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:37266400-37267000	Active TSS	Brain Cingulate Gyrus	brain
35	chr19:37266400-37267000	Flanking Active TSS	Placenta	Placenta
36	chr19:37266400-37267000	ZNF genes & repeats	Left Ventricle	heart
37	chr19:37266400-37267000	ZNF genes & repeats	Pancreas	Pancrea
38	chr19:37266400-37267000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
39	chr19:37266400-37267000	ZNF genes & repeats	HSMM	muscle
40	chr19:37266400-37267000	Active TSS	NH-A	brain
41	chr19:37266400-37267200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr19:37266400-37267200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:37266400-37267200	Active TSS	Brain Hippocampus Middle	brain
44	chr19:37266400-37267200	Active TSS	Fetal Muscle Leg	muscle
45	chr19:37266400-37267200	Active TSS	Osteobl	bone
46	chr19:37266400-37267400	Active TSS	Brain Anterior Caudate	brain
47	chr19:37266400-37267400	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr19:37266400-37267400	Active TSS	Ovary	ovary
49	chr19:37266400-37267600	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:37266400-37267600	ZNF genes & repeats	Fetal Stomach	stomach

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