Variant report

Variant	rs2010342
Chromosome Location	chr19:37406671-37406672
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	TAF1	chr19:37406620-37407628	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:37406614-37407572	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:37406547-37407790	SK-N-MC	brain:	n/a	n/a
4	E2F6	chr19:37406653-37407613	A549	lung:	n/a	chr19:37407215-37407225 chr19:37406780-37406789
5	POLR2A	chr19:37406663-37407637	PANC-1	pancreas:	n/a	n/a
6	TCF7L2	chr19:37406637-37407886	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr19:37406614-37407669	PANC-1	pancreas:	n/a	n/a
8	GABPA	chr19:37406671-37407649	HL-60	blood:	n/a	chr19:37406783-37406792
9	GATA3	chr19:37406620-37407416	A549	lung:	n/a	n/a
10	MAX	chr19:37406650-37407812	A549	lung:	n/a	n/a
11	MXI1	chr19:37406664-37408735	IMR90	lung:	n/a	n/a
12	ZBTB33	chr19:37406616-37407641	SK-N-SH	brain:	n/a	chr19:37406957-37406966 chr19:37406927-37406937
13	MXI1	chr19:37406516-37408652	SK-N-SH	brain:	n/a	n/a
14	REST	chr19:37406630-37407853	H1-neurons	neurons:	n/a	chr19:37407033-37407043 chr19:37407378-37407396
15	POLR2A	chr19:37406643-37407761	GM12878	blood:	n/a	n/a
16	ZBTB33	chr19:37406655-37407791	SK-N-SH	brain:	n/a	chr19:37406957-37406966 chr19:37406927-37406937

Variant related genes	Relation type
ZNF568	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10401212	0.85[EUR][1000 genomes]
rs10404981	0.86[ASN][1000 genomes]
rs10407557	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408951	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409206	0.88[ASN][1000 genomes]
rs10414781	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10414907	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10418144	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426008	0.80[ASN][1000 genomes]
rs11084868	1.00[ASN][1000 genomes]
rs12981965	0.85[ASN][1000 genomes]
rs13345230	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971771	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971772	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385470	0.85[EUR][1000 genomes]
rs28626335	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3955478	0.85[EUR][1000 genomes]
rs4006391	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4006392	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4805189	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4805190	1.00[ASN][1000 genomes]
rs4806376	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4806377	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56387564	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60293110	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115573	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115574	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115612	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62115615	0.85[ASN][1000 genomes]
rs7249013	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7257045	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257251	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7257484	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73626774	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101922	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304878	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37395200-37406800	Weak transcription	Stomach Mucosa	stomach
2	chr19:37400400-37406800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr19:37403200-37406800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:37404600-37409800	ZNF genes & repeats	A549	lung
5	chr19:37405600-37410000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr19:37405800-37407800	Active TSS	Brain Cingulate Gyrus	brain
7	chr19:37405800-37408000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:37406000-37407400	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr19:37406000-37407400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr19:37406000-37407600	Active TSS	Adipose Nuclei	Adipose
11	chr19:37406000-37407800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr19:37406000-37408000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:37406000-37408000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:37406000-37408000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:37406000-37408000	Active TSS	Rectal Smooth Muscle	rectum
16	chr19:37406000-37408200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr19:37406000-37408200	Active TSS	Fetal Kidney	kidney
18	chr19:37406000-37408200	Active TSS	NHLF	lung
19	chr19:37406000-37408400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:37406200-37406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:37406200-37407200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:37406200-37407800	Active TSS	Primary hematopoietic stem cells	blood
23	chr19:37406200-37408000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:37406200-37408000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:37406200-37408000	Active TSS	Pancreas	Pancrea
26	chr19:37406200-37408200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr19:37406200-37408200	Active TSS	HSMMtube	muscle
28	chr19:37406200-37408400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr19:37406200-37408400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr19:37406200-37408400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr19:37406200-37408600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:37406200-37408600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:37406400-37406800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr19:37406400-37406800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:37406400-37406800	Weak transcription	Spleen	Spleen
36	chr19:37406400-37407000	Flanking Active TSS	Dnd41	blood
37	chr19:37406400-37407600	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr19:37406400-37407600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr19:37406400-37407600	Active TSS	Duodenum Mucosa	Duodenum
40	chr19:37406400-37407600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr19:37406400-37407800	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr19:37406400-37407800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr19:37406400-37407800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:37406400-37407800	Active TSS	Brain Germinal Matrix	brain
45	chr19:37406400-37407800	Active TSS	Colon Smooth Muscle	Colon
46	chr19:37406400-37407800	Active TSS	Fetal Brain Female	brain
47	chr19:37406400-37407800	Active TSS	Fetal Stomach	stomach
48	chr19:37406400-37408000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:37406400-37408000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:37406400-37408000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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