Variant report

Variant	rs62112634
Chromosome Location	chr19:36870206-36870207
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	chr19:36869613-36870408	GM18505	blood:	n/a	n/a
2	RUNX3	chr19:36869703-36870247	GM12878	blood:	n/a	n/a
3	HEY1	chr19:36869858-36870351	K562	blood:	n/a	chr19:36870190-36870205
4	MAZ	chr19:36869561-36870321	GM12878	blood:	n/a	chr19:36869774-36869783
5	CEBPD	chr19:36869805-36870353	HepG2	liver:	n/a	n/a
6	GABPA	chr19:36869905-36870252	Hela-S3	cervix:	n/a	chr19:36870178-36870192 chr19:36870178-36870189 chr19:36870178-36870187 chr19:36870175-36870189 chr19:36870180-36870189
7	MYC	chr19:36869644-36870237	MCF10A-Er-Src	breast:	n/a	chr19:36869774-36869783
8	BHLHE40	chr19:36869715-36870248	GM12878	blood:	n/a	chr19:36870186-36870202
9	MAFK	chr19:36870043-36870299	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:36869856-36870454	SK-N-MC	brain:	n/a	n/a
11	E2F4	chr19:36870020-36870335	MCF10A-Er-Src	breast:	n/a	chr19:36870213-36870225 chr19:36870179-36870188
12	POLR2A	chr19:36869569-36870490	SK-N-SH	brain:	n/a	n/a
13	CREB1	chr19:36869532-36870354	GM12878	blood:	n/a	n/a
14	E2F6	chr19:36869427-36870464	A549	lung:	n/a	chr19:36870213-36870225 chr19:36870179-36870188 chr19:36870214-36870225
15	MYBL2	chr19:36869712-36870307	HepG2	liver:	n/a	n/a
16	SIX5	chr19:36869718-36870234	GM12878	blood:	n/a	chr19:36870119-36870133 chr19:36870120-36870129 chr19:36870122-36870131
17	POLR2A	chr19:36869837-36870326	HepG2	liver:	n/a	n/a
18	YY1	chr19:36869457-36870300	SK-N-SH	brain:	n/a	chr19:36870166-36870180 chr19:36870187-36870201
19	GABPA	chr19:36869872-36870245	HepG2	liver:	n/a	chr19:36870178-36870192 chr19:36870178-36870189 chr19:36870178-36870187 chr19:36870175-36870189 chr19:36870180-36870189
20	POLR2A	chr19:36869617-36870413	Hela-S3	cervix:	n/a	n/a
21	MAX	chr19:36869924-36870392	HepG2	liver:	n/a	n/a
22	E2F6	chr19:36869954-36870613	H1-hESC	embryonic stem cell:	n/a	chr19:36870213-36870225 chr19:36870179-36870188 chr19:36870214-36870225
23	ELK1	chr19:36869933-36870314	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:36869706-36870409	GM19099	blood:	n/a	n/a
25	POLR2A	chr19:36869824-36870482	HUVEC	blood vessel:	n/a	n/a
26	REST	chr19:36868779-36870586	H1-neurons	neurons:	n/a	chr19:36869518-36869531 chr19:36870225-36870238 chr19:36868853-36868871
27	GABPA	chr19:36869886-36870238	GM12878	blood:	n/a	chr19:36870178-36870192 chr19:36870178-36870189 chr19:36870178-36870187 chr19:36870175-36870189 chr19:36870180-36870189
28	SIX5	chr19:36869794-36870351	H1-hESC	embryonic stem cell:	n/a	chr19:36870119-36870133 chr19:36870120-36870129 chr19:36870122-36870131
29	HEY1	chr19:36869647-36870335	HepG2	liver:	n/a	chr19:36870190-36870205
30	ELF1	chr19:36869641-36870297	A549	lung:	n/a	chr19:36870187-36870199
31	POLR2A	chr19:36869525-36870583	MCF-7	breast:	n/a	n/a
32	SIN3AK20	chr19:36869422-36870458	MCF-7	breast:	n/a	n/a
33	TEAD4	chr19:36869788-36870320	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr19:36869635-36870357	H1-hESC	embryonic stem cell:	n/a	n/a
35	TBP	chr19:36869768-36870243	K562	blood:	n/a	n/a
36	POLR2A	chr19:36869691-36870389	GM19193	blood:	n/a	n/a
37	POLR2A	chr19:36869635-36870418	GM12891	blood:	n/a	n/a
38	ETS1	chr19:36869847-36870354	GM12878	blood:	n/a	chr19:36870089-36870098 chr19:36870189-36870202 chr19:36870120-36870133
39	EP300	chr19:36869715-36870212	HepG2	liver:	n/a	chr19:36870187-36870196
40	MXI1	chr19:36869202-36870304	IMR90	lung:	n/a	n/a
41	HA-E2F1	chr19:36869445-36870320	MCF-7	breast:	n/a	chr19:36870213-36870225 chr19:36870179-36870188
42	ELF1	chr19:36869850-36870338	K562	blood:	n/a	chr19:36870187-36870199
43	POLR2A	chr19:36870095-36870326	U87	brain:	n/a	n/a
44	SP1	chr19:36869239-36870483	A549	lung:	n/a	n/a
45	MYC	chr19:36869502-36870274	MCF10A-Er-Src	breast:	n/a	chr19:36869774-36869783
46	JUND	chr19:36869724-36870442	MCF-7	breast:	n/a	n/a
47	MTA3	chr19:36869716-36870469	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr19:36869413-36870252	SK-N-SH	brain:	n/a	n/a
49	YY1	chr19:36869511-36870374	HepG2	liver:	n/a	chr19:36870166-36870180 chr19:36870187-36870201
50	YY1	chr19:36869678-36870278	ECC-1	luminal epithelium:	n/a	chr19:36870166-36870180 chr19:36870187-36870201

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36870186-36870236	ovcar-3	ovarian:	n/a
2	chr19:36870186-36870236	BJ	skin:	n/a
3	chr19:36870186-36870236	CMK	blood:	n/a
4	chr19:36870186-36870236	GM12892	blood:	n/a
5	chr19:36870186-36870236	A549	lung:	n/a
6	chr19:36870186-36870236	SKMC	muscle:	n/a
7	chr19:36870186-36870236	Hepatocyte	liver:	n/a
8	chr19:36870186-36870236	AG04450	lung:	fetal
9	chr19:36870186-36870236	SK-N-SH_RA	brain:	n/a
10	chr19:36870186-36870236	HRE	kidney:	n/a
11	chr19:36870186-36870236	HNPCEpiC	eye:	n/a
12	chr19:36870186-36870236	HL-60	blood:	n/a
13	chr19:36870186-36870236	HepG2	liver:	n/a
14	chr19:36870186-36870236	PANC-1	pancreas:	n/a
15	chr19:36870186-36870236	HPAEpiC	pulmonary alveolar:	n/a
16	chr19:36870186-36870236	MCF-7	breast:	n/a
17	chr19:36870186-36870236	Hela-S3	cervix:	n/a
18	chr19:36870186-36870236	HRCEpiC	kidney:	n/a
19	chr19:36870186-36870236	RPTEC	kidney:	n/a
20	chr19:36870186-36870236	HCM	heart:	n/a
21	chr19:36870186-36870236	AG10803	skin:	n/a
22	chr19:36870186-36870236	HUVEC	blood vessel:	n/a
23	chr19:36870186-36870236	GM06990	blood:	n/a
24	chr19:36870186-36870236	HCT-116	colon:	n/a
25	chr19:36870186-36870236	LNCaP	prostate:	n/a
26	chr19:36870186-36870236	GM12891	blood:	n/a
27	chr19:36870186-36870236	PFSK-1	brain:	n/a
28	chr19:36870186-36870236	HAEpiC	amniotic membrane:	n/a
29	chr19:36870186-36870236	HMEC	breast:	n/a
30	chr19:36870186-36870236	SK-N-SH	brain:	n/a
31	chr19:36870186-36870236	NB4	blood:	n/a
32	chr19:36870186-36870236	SAEC	small airway:	n/a
33	chr19:36870186-36870236	T-47D	breast:	n/a
34	chr19:36870186-36870236	ECC-1	luminal epithelium:	n/a
35	chr19:36870186-36870236	AoSMC	blood vessel:	n/a
36	chr19:36870186-36870236	HEK293	kidney:	embryo
37	chr19:36870186-36870236	NT2-D1	testis:	n/a
38	chr19:36870186-36870236	PrEC	prostate:	n/a
39	chr19:36870186-36870236	MCF10A-Er-Src	breast:	n/a
40	chr19:36870186-36870236	HEEpiC	esophagus:	n/a
41	chr19:36870186-36870236	U87	brain:	n/a
42	chr19:36870186-36870236	HIPEpiC	eye:	n/a
43	chr19:36870186-36870236	IMR90	lung:	fetal
44	chr19:36870186-36870236	HRPEpiC	eye:	n/a
45	chr19:36870186-36870236	Jurkat	blood:	n/a
46	chr19:36870186-36870236	BE2_C	brain:	n/a
47	chr19:36870186-36870236	Caco-2	colon:	n/a
48	chr19:36870186-36870236	SK-N-MC	brain:	n/a
49	chr19:36870186-36870236	H1-hESC	embryonic stem cell:	embryo
50	chr19:36870186-36870236	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36869355..36872280-chr19:37261242..37264152,2	MCF-7	breast:
2	chr19:36869703..36871321-chr19:37018127..37020542,2	K562	blood:
3	chr19:36868756..36870628-chr19:37018916..37021157,2	MCF-7	breast:

Variant related genes	Relation type
ZFP14	TF binding region
ZFP14	CpG island
ENSG00000267260	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000267041	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11084855	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11084857	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1127406	0.82[EUR][1000 genomes]
rs1129375	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1129376	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11882601	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17206365	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17639740	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2918350	0.80[ASN][1000 genomes]
rs2918352	0.81[EUR][1000 genomes]
rs2918353	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2918362	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2918366	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2918367	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2918371	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2918374	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2967488	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2967490	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967491	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967492	0.81[EUR][1000 genomes]
rs2967494	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2967495	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2967498	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2967499	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2967502	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2967503	0.80[EUR][1000 genomes]
rs2972630	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2972634	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972635	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2972636	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2972638	0.80[EUR][1000 genomes]
rs2972643	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972650	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972654	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972655	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35822095	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57488812	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58192477	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58333554	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60499535	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60842204	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62112620	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62112621	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62112627	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62112629	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73043854	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7343105	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8111845	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8113638	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62112634	LOC284412	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36868600-36870800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:36868800-36870400	Active TSS	NHLF	lung
3	chr19:36868800-36870600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr19:36868800-36870600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:36868800-36870600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:36868800-36870600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:36868800-36870600	Active TSS	NHDF-Ad	bronchial
8	chr19:36868800-36870800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr19:36869000-36870400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:36869000-36870400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:36869000-36870400	Active TSS	Fetal Intestine Large	intestine
12	chr19:36869000-36870400	Active TSS	Fetal Intestine Small	intestine
13	chr19:36869000-36870400	Active TSS	HSMMtube	muscle
14	chr19:36869000-36870400	Active TSS	K562	blood
15	chr19:36869000-36870600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:36869000-36870600	Active TSS	Colonic Mucosa	Colon
17	chr19:36869000-36870600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr19:36869000-36870600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr19:36869000-36870800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:36869000-36870800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:36869200-36870400	Active TSS	Aorta	Aorta
22	chr19:36869200-36870400	Active TSS	Fetal Muscle Leg	muscle
23	chr19:36869200-36870400	Active TSS	Pancreas	Pancrea
24	chr19:36869200-36870400	Active TSS	Stomach Mucosa	stomach
25	chr19:36869200-36870600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:36869200-36870600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr19:36869200-36870600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:36869200-36870600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr19:36869200-36870600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:36869200-36870600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:36869200-36870600	Active TSS	Placenta	Placenta
32	chr19:36869200-36870600	Active TSS	Ovary	ovary
33	chr19:36869200-36870600	Active TSS	Right Atrium	heart
34	chr19:36869200-36870600	Active TSS	Right Ventricle	heart
35	chr19:36869200-36870800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr19:36869200-36870800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:36869200-36870800	Active TSS	Brain Angular Gyrus	brain
38	chr19:36869200-36870800	Active TSS	Fetal Kidney	kidney
39	chr19:36869200-36870800	Active TSS	Psoas Muscle	Psoas
40	chr19:36869200-36871200	Active TSS	HSMM	muscle
41	chr19:36869400-36870400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:36869400-36870400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr19:36869400-36870400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:36869400-36870400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:36869400-36870400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr19:36869400-36870400	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr19:36869400-36870400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:36869400-36870400	Active TSS	Colon Smooth Muscle	Colon
49	chr19:36869400-36870400	Active TSS	Fetal Brain Male	brain
50	chr19:36869400-36870400	Active TSS	Fetal Heart	heart

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