Variant report

Variant	rs10426699
Chromosome Location	chr19:37803697-37803698
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37803362-37804051	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr19:37803408-37803957	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr19:37803577-37803786	Lung_OC	lung:	n/a	n/a
4	POLR2A	chr19:37803667-37803746	H1-hESC	embryonic stem cell:	n/a	n/a
5	EBF1	chr19:37803594-37803880	GM12878	blood:	n/a	n/a
6	SP1	chr19:37803623-37803983	GM12878	blood:	n/a	n/a
7	SIN3A	chr19:37803438-37803995	H1-hESC	embryonic stem cell:	n/a	chr19:37803565-37803576
8	TCF3	chr19:37803614-37803860	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:37803580-37803703	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr19:37803566-37803818	HepG2	liver:	n/a	n/a
11	CTCF	chr19:37803565-37803931	Spleen_OC	spleen:	n/a	n/a
12	MXI1	chr19:37803030-37804356	SK-N-SH	brain:	n/a	chr19:37803672-37803687 chr19:37803882-37803891
13	HA-E2F1	chr19:37803483-37804135	MCF-7	breast:	n/a	chr19:37804103-37804112 chr19:37803873-37803885
14	FOSL2	chr19:37803583-37803884	HepG2	liver:	n/a	chr19:37803779-37803788
15	POLR2A	chr19:37803625-37804065	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr19:37803694-37803702	MCF-7	breast:	n/a	n/a
17	SIN3AK20	chr19:37803450-37803936	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:37803618-37803708	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37803661-37803711	CMK	blood:	n/a
2	chr19:37803661-37803711	AG04450	lung:	fetal
3	chr19:37803661-37803711	PANC-1	pancreas:	n/a
4	chr19:37803661-37803711	GM12891	blood:	n/a
5	chr19:37803661-37803711	HNPCEpiC	eye:	n/a
6	chr19:37803661-37803711	HRE	kidney:	n/a
7	chr19:37803661-37803711	ECC-1	luminal epithelium:	n/a
8	chr19:37803661-37803711	T-47D	breast:	n/a
9	chr19:37803661-37803711	HRCEpiC	kidney:	n/a
10	chr19:37803661-37803711	HPAEpiC	pulmonary alveolar:	n/a
11	chr19:37803661-37803711	NHDF-neo	bronchial:	n/a
12	chr19:37803661-37803711	K562	blood:	n/a
13	chr19:37803661-37803711	SK-N-SH	brain:	n/a
14	chr19:37803661-37803711	IMR90	lung:	fetal
15	chr19:37803661-37803711	AG10803	skin:	n/a
16	chr19:37803661-37803711	HUVEC	blood vessel:	n/a
17	chr19:37803661-37803711	NH-A	brain:	n/a
18	chr19:37803661-37803711	AoSMC	blood vessel:	n/a
19	chr19:37803661-37803711	MCF10A-Er-Src	breast:	n/a
20	chr19:37803661-37803711	H1-hESC	embryonic stem cell:	embryo
21	chr19:37803661-37803711	Hepatocyte	liver:	n/a
22	chr19:37803661-37803711	HCM	heart:	n/a
23	chr19:37803661-37803711	PFSK-1	brain:	n/a
24	chr19:37803661-37803711	ovcar-3	ovarian:	n/a
25	chr19:37803661-37803711	HCT-116	colon:	n/a
26	chr19:37803661-37803711	LNCaP	prostate:	n/a
27	chr19:37803661-37803711	HCPEpiC	choroid plexus:	n/a
28	chr19:37803661-37803711	AG09309	skin:	n/a
29	chr19:37803661-37803711	BJ	skin:	n/a
30	chr19:37803661-37803711	Caco-2	colon:	n/a
31	chr19:37803661-37803711	HIPEpiC	eye:	n/a
32	chr19:37803661-37803711	SK-N-SH_RA	brain:	n/a
33	chr19:37803661-37803711	HRPEpiC	eye:	n/a
34	chr19:37803661-37803711	GM19239	blood:	n/a
35	chr19:37803661-37803711	GM06990	blood:	n/a
36	chr19:37803661-37803711	SK-N-MC	brain:	n/a
37	chr19:37803661-37803711	RPTEC	kidney:	n/a
38	chr19:37803661-37803711	BE2_C	brain:	n/a
39	chr19:37803661-37803711	AG04449	skin:	fetal
40	chr19:37803661-37803711	Jurkat	blood:	n/a
41	chr19:37803661-37803711	HCF	heart:	n/a
42	chr19:37803661-37803711	U87	brain:	n/a
43	chr19:37803661-37803711	Hela-S3	cervix:	n/a
44	chr19:37803661-37803711	ProgFib	skin:	n/a
45	chr19:37803661-37803711	AG09319	gingival:	n/a
46	chr19:37803661-37803711	HAEpiC	amniotic membrane:	n/a
47	chr19:37803661-37803711	A549	lung:	n/a
48	chr19:37803661-37803711	HMEC	breast:	n/a
49	chr19:37803661-37803711	NB4	blood:	n/a
50	chr19:37803661-37803711	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
HKR1	TF binding region
HKR1	CpG island

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1015848	0.84[EUR][1000 genomes]
rs1015849	0.84[EUR][1000 genomes]
rs1035479	0.84[EUR][1000 genomes]
rs10403582	0.82[EUR][1000 genomes]
rs10403613	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10404602	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10404920	0.93[EUR][1000 genomes]
rs10405064	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10405325	0.89[EUR][1000 genomes]
rs10405407	0.96[EUR][1000 genomes]
rs10406177	0.82[EUR][1000 genomes]
rs10407084	0.84[EUR][1000 genomes]
rs10409204	0.86[EUR][1000 genomes]
rs10412043	0.97[EUR][1000 genomes]
rs10413602	0.87[EUR][1000 genomes]
rs10414904	0.96[EUR][1000 genomes]
rs10415024	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10415358	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10415937	0.96[EUR][1000 genomes]
rs10417503	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10417844	0.96[EUR][1000 genomes]
rs10420430	0.87[EUR][1000 genomes]
rs10422074	0.87[EUR][1000 genomes]
rs10422423	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10422667	0.84[EUR][1000 genomes]
rs10422967	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10424574	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10426297	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10426618	0.84[EUR][1000 genomes]
rs10426666	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12104380	0.95[EUR][1000 genomes]
rs12104381	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12709812	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12709813	0.96[EUR][1000 genomes]
rs12972252	0.84[EUR][1000 genomes]
rs12979470	0.83[EUR][1000 genomes]
rs12981532	0.87[EUR][1000 genomes]
rs12982333	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13343471	0.86[EUR][1000 genomes]
rs13343485	0.92[EUR][1000 genomes]
rs13343502	0.82[EUR][1000 genomes]
rs13345116	0.96[EUR][1000 genomes]
rs13345148	0.98[EUR][1000 genomes]
rs1373991	0.96[EUR][1000 genomes]
rs1559229	0.89[EUR][1000 genomes]
rs1823061	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2112923	0.82[EUR][1000 genomes]
rs2303131	0.86[EUR][1000 genomes]
rs28402338	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28538699	0.82[EUR][1000 genomes]
rs28623164	0.83[EUR][1000 genomes]
rs2891699	0.83[EUR][1000 genomes]
rs34544865	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34603719	0.85[EUR][1000 genomes]
rs35085437	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35777021	0.86[EUR][1000 genomes]
rs3745765	0.94[EUR][1000 genomes]
rs3760825	0.82[EUR][1000 genomes]
rs3803895	0.84[EUR][1000 genomes]
rs4417644	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4452075	0.90[EUR][1000 genomes]
rs4801759	0.84[EUR][1000 genomes]
rs4801803	0.82[EUR][1000 genomes]
rs4802766	0.80[EUR][1000 genomes]
rs4803229	0.92[EUR][1000 genomes]
rs4803347	0.96[EUR][1000 genomes]
rs4803460	0.84[EUR][1000 genomes]
rs4803539	0.84[EUR][1000 genomes]
rs4969487	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57795776	0.85[EUR][1000 genomes]
rs6508711	0.98[EUR][1000 genomes]
rs6508713	0.89[EUR][1000 genomes]
rs6508714	0.89[EUR][1000 genomes]
rs6508715	0.89[EUR][1000 genomes]
rs6508716	0.97[EUR][1000 genomes]
rs6508719	0.89[EUR][1000 genomes]
rs67293224	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs713256	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7246993	0.87[EUR][1000 genomes]
rs7247259	0.96[EUR][1000 genomes]
rs7252099	0.86[EUR][1000 genomes]
rs7252325	0.83[EUR][1000 genomes]
rs7252346	0.83[EUR][1000 genomes]
rs7255407	0.83[EUR][1000 genomes]
rs7255972	0.86[EUR][1000 genomes]
rs7256130	0.80[EUR][1000 genomes]
rs7257495	0.98[EUR][1000 genomes]
rs7257672	0.98[EUR][1000 genomes]
rs7258692	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7259968	0.98[EUR][1000 genomes]
rs7408133	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7408446	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7408563	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8109632	0.83[EUR][1000 genomes]
rs8111782	0.93[EUR][1000 genomes]
rs8112610	0.80[EUR][1000 genomes]
rs9304566	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9676967	0.83[EUR][1000 genomes]
rs9917081	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3520361	chr19:37745067-37811325	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3520362	chr19:37745067-37811325	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv978811	chr19:37749967-37820517	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37803000-37804000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:37803000-37804000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:37803000-37804000	Active TSS	Brain Germinal Matrix	brain
4	chr19:37803000-37804000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr19:37803000-37804200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:37803000-37804200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:37803000-37804200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:37803000-37804200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:37803000-37804200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr19:37803000-37804200	Active TSS	Fetal Brain Female	brain
11	chr19:37803000-37804200	Active TSS	Fetal Kidney	kidney
12	chr19:37803000-37804400	Active TSS	HepG2	liver
13	chr19:37803000-37804600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:37803000-37804600	Enhancers	Fetal Brain Male	brain
15	chr19:37803000-37804800	Flanking Active TSS	Dnd41	blood
16	chr19:37803200-37803800	Active TSS	Placenta Amnion	Placenta Amnion
17	chr19:37803200-37804000	Active TSS	Muscle Satellite Cultured Cells	--
18	chr19:37803200-37804000	Active TSS	Brain Angular Gyrus	brain
19	chr19:37803200-37804000	Active TSS	Psoas Muscle	Psoas
20	chr19:37803200-37804000	Active TSS	Stomach Mucosa	stomach
21	chr19:37803200-37804000	Active TSS	NHDF-Ad	bronchial
22	chr19:37803200-37804000	Active TSS	Osteobl	bone
23	chr19:37803200-37804200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr19:37803200-37804200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr19:37803200-37804200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:37803200-37804200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:37803200-37804200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:37803200-37804200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr19:37803200-37804200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:37803200-37804200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:37803200-37804200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr19:37803200-37804200	Active TSS	Brain Cingulate Gyrus	brain
33	chr19:37803200-37804200	Active TSS	Fetal Intestine Small	intestine
34	chr19:37803200-37804200	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr19:37803200-37804400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr19:37803200-37804400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:37803200-37804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:37803200-37804400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr19:37803200-37804600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:37803400-37803800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:37803400-37803800	Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr19:37803400-37803800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr19:37803400-37803800	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr19:37803400-37803800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:37803400-37803800	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr19:37803400-37804000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:37803400-37804000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:37803400-37804000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:37803400-37804000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:37803400-37804000	Active TSS	Primary T cells from cord blood	blood

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