Variant report

Variant	rs111251702
Chromosome Location	chr19:35758340-35758341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35756975-35759966	MCF-7	breast:	n/a	n/a
2	POLR2A	chr19:35757990-35759241	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:35754617-35758779	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr19:35756605-35760886	GM19193	blood:	n/a	n/a
5	POLR2A	chr19:35756735-35759378	HCT-116	colon:	n/a	n/a
6	POLR2A	chr19:35754823-35759078	PBDE	blood:	n/a	n/a
7	POLR2A	chr19:35754928-35760887	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:35754084-35759312	PANC-1	pancreas:	n/a	n/a
9	MAZ	chr19:35757475-35759422	K562	blood:	n/a	n/a
10	POLR2A	chr19:35757150-35759016	K562	blood:	n/a	n/a
11	POLR2A	chr19:35757810-35759163	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr19:35757785-35759246	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr19:35754965-35760872	K562	blood:	n/a	n/a
14	YY1	chr19:35757884-35758579	K562	blood:	n/a	n/a
15	ELF1	chr19:35758239-35758828	A549	lung:	n/a	n/a
16	CHD2	chr19:35758217-35759420	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr19:35757036-35760953	GM18951	blood:	n/a	n/a
18	PBX3	chr19:35757788-35759399	A549	lung:	n/a	n/a
19	POLR2A	chr19:35754917-35759308	HepG2	liver:	n/a	n/a
20	PML	chr19:35758199-35759050	K562	blood:	n/a	n/a
21	POLR2A	chr19:35751612-35760840	K562	blood:	n/a	n/a
22	POLR2A	chr19:35758197-35758366	Hela-S3	cervix:	n/a	n/a
23	NRF1	chr19:35758214-35759728	SK-N-SH	brain:	n/a	chr19:35759082-35759093 chr19:35759084-35759093 chr19:35759081-35759092 chr19:35759079-35759093 chr19:35759082-35759096 chr19:35759033-35759044 chr19:35759082-35759091
24	POLR2A	chr19:35751524-35759415	MCF-7	breast:	n/a	n/a
25	POLR2A	chr19:35757678-35759211	U87	brain:	n/a	n/a
26	POLR2A	chr19:35754928-35759882	K562	blood:	n/a	n/a
27	POLR2A	chr19:35757608-35760209	HUVEC	blood vessel:	n/a	n/a
28	FOSL2	chr19:35758323-35758989	A549	lung:	n/a	chr19:35758897-35758906
29	POLR2A	chr19:35758325-35759153	HL-60	blood:	n/a	n/a
30	POLR2A	chr19:35754937-35759358	K562	blood:	n/a	n/a
31	MAX	chr19:35757379-35761135	A549	lung:	n/a	chr19:35760929-35760939 chr19:35757438-35757448
32	POLR2A	chr19:35757666-35759365	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr19:35754929-35759928	GM12878	blood:	n/a	n/a
34	YY1	chr19:35758120-35758353	K562	blood:	n/a	n/a
35	POLR2A	chr19:35757885-35759211	U87	brain:	n/a	n/a
36	BCL3	chr19:35758185-35759297	GM12878	blood:	n/a	chr19:35759169-35759182 chr19:35758899-35758908
37	POLR2A	chr19:35755910-35759378	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr19:35758307-35758672	H1-hESC	embryonic stem cell:	n/a	n/a
39	RUNX3	chr19:35758112-35759307	GM12878	blood:	n/a	n/a
40	SIX5	chr19:35758097-35759132	A549	lung:	n/a	n/a
41	POLR2A	chr19:35757213-35760885	GM15510	blood:	n/a	n/a
42	POLR2A	chr19:35756947-35758743	HepG2	liver:	n/a	n/a
43	STAT5A	chr19:35757475-35759095	GM12878	blood:	n/a	chr19:35757994-35758006
44	POLR2A	chr19:35757954-35759317	ProgFib	skin:	n/a	n/a
45	MAX	chr19:35757682-35759361	K562	blood:	n/a	n/a
46	POLR2A	chr19:35754913-35759311	GM12891	blood:	n/a	n/a
47	POLR2A	chr19:35758154-35759333	Gliobla	brain:	n/a	n/a
48	NFATC1	chr19:35757672-35759027	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:35756845-35759466	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:35758320-35758470	AG04449	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35758300-35758350	GM19239	blood:	n/a
2	chr19:35758300-35758350	HEEpiC	esophagus:	n/a
3	chr19:35758300-35758350	NT2-D1	testis:	n/a
4	chr19:35758300-35758350	Jurkat	blood:	n/a
5	chr19:35758300-35758350	SK-N-SH	brain:	n/a
6	chr19:35758300-35758350	HRE	kidney:	n/a
7	chr19:35758300-35758350	LNCaP	prostate:	n/a
8	chr19:35758300-35758350	Hela-S3	cervix:	n/a
9	chr19:35758300-35758350	NHDF-neo	bronchial:	n/a
10	chr19:35758300-35758350	GM06990	blood:	n/a
11	chr19:35758300-35758350	HUVEC	blood vessel:	n/a
12	chr19:35758300-35758350	U87	brain:	n/a
13	chr19:35758300-35758350	MCF10A-Er-Src	breast:	n/a
14	chr19:35758300-35758350	ProgFib	skin:	n/a
15	chr19:35758300-35758350	SK-N-SH_RA	brain:	n/a
16	chr19:35758300-35758350	GM12878	blood:	n/a
17	chr19:35758300-35758350	HCT-116	colon:	n/a
18	chr19:35758300-35758350	A549	lung:	n/a
19	chr19:35758300-35758350	AG04450	lung:	fetal
20	chr19:35758300-35758350	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:35758300-35758350	AG09319	gingival:	n/a
22	chr19:35758300-35758350	HRCEpiC	kidney:	n/a
23	chr19:35758300-35758350	HL-60	blood:	n/a
24	chr19:35758300-35758350	AoSMC	blood vessel:	n/a
25	chr19:35758300-35758350	T-47D	breast:	n/a
26	chr19:35758300-35758350	HIPEpiC	eye:	n/a
27	chr19:35758300-35758350	HCF	heart:	n/a
28	chr19:35758300-35758350	CMK	blood:	n/a
29	chr19:35758300-35758350	SKMC	muscle:	n/a
30	chr19:35758300-35758350	SAEC	small airway:	n/a
31	chr19:35758300-35758350	HEK293	kidney:	embryo
32	chr19:35758300-35758350	K562	blood:	n/a
33	chr19:35758300-35758350	HRPEpiC	eye:	n/a
34	chr19:35758300-35758350	BE2_C	brain:	n/a
35	chr19:35758300-35758350	Hepatocyte	liver:	n/a
36	chr19:35758300-35758350	NH-A	brain:	n/a
37	chr19:35758300-35758350	NHBE	bronchial:	n/a
38	chr19:35758300-35758350	HAEpiC	amniotic membrane:	n/a
39	chr19:35758300-35758350	PrEC	prostate:	n/a
40	chr19:35758300-35758350	SK-N-MC	brain:	n/a
41	chr19:35758300-35758350	ECC-1	luminal epithelium:	n/a
42	chr19:35758300-35758350	AG09309	skin:	n/a
43	chr19:35758300-35758350	MCF-7	breast:	n/a
44	chr19:35758300-35758350	BJ	skin:	n/a
45	chr19:35758300-35758350	AG04449	skin:	fetal
46	chr19:35758300-35758350	GM12892	blood:	n/a
47	chr19:35758300-35758350	HMEC	breast:	n/a
48	chr19:35758300-35758350	IMR90	lung:	fetal
49	chr19:35758300-35758350	HepG2	liver:	n/a
50	chr19:35758300-35758350	HCM	heart:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35653961..35659020-chr19:35755691..35760689,8	K562	blood:
2	chr19:35644831..35647736-chr19:35757479..35762010,7	K562	blood:
3	chr19:35703379..35705750-chr19:35757891..35759671,2	K562	blood:
4	chr19:35631425..35638367-chr19:35753629..35761294,12	MCF-7	breast:
5	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
6	chr19:35758290..35762202-chr19:35770035..35773582,5	K562	blood:
7	chr19:35489265..35492467-chr19:35757325..35761392,4	MCF-7	breast:
8	chr19:35601805..35607657-chr19:35757139..35762248,8	MCF-7	breast:
9	chr19:35757206..35760502-chr19:36133299..36134978,3	K562	blood:
10	chr19:35757743..35760122-chr19:36207492..36209553,2	MCF-7	breast:
11	chr19:35643953..35647244-chr19:35757991..35762600,5	K562	blood:
12	chr19:35757826..35762091-chr19:35999806..36002359,4	MCF-7	breast:
13	chr19:35653961..35658211-chr19:35756444..35760028,4	K562	blood:
14	chr19:35756917..35760158-chr19:36118192..36121519,3	K562	blood:
15	chr19:35609312..35611565-chr19:35756942..35759045,2	MCF-7	breast:
16	chr19:35632199..35636848-chr19:35758097..35761761,8	K562	blood:
17	chr19:35756455..35758959-chr19:35940414..35943178,2	MCF-7	breast:
18	chr19:35758257..35759090-chr22:20307202..20307771,2	HCT-116	colon:
19	chr19:35606190..35608948-chr19:35758089..35760564,2	MCF-7	breast:
20	chr19:35757401..35760609-chr19:35817502..35820242,3	MCF-7	breast:
21	chr19:35757352..35763490-chr19:35798817..35804347,10	MCF-7	breast:
22	chr19:35758155..35760598-chr19:35818136..35820258,3	MCF-7	breast:

No data

Variant related genes	Relation type
USF2	TF binding region
USF2	CpG island
ENSG00000089356	Chromatin interaction
ENSG00000128185	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000126262	Chromatin interaction
ENSG00000266964	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000269303	Chromatin interaction
ENSG00000221946	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000161249	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
10	nsv911620	chr19:35752917-35771382	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
11	nsv911621	chr19:35752917-35772471	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
12	nsv911622	chr19:35752917-35773146	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
13	nsv911623	chr19:35752917-35775441	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
14	esv18325	chr19:35758040-35761056	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	n/a
15	esv3371673	chr19:35758137-35761085	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35755200-35758400	Enhancers	Fetal Heart	heart
2	chr19:35757200-35758400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:35757200-35758600	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr19:35757400-35758400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
5	chr19:35757400-35758600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:35757400-35758600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:35757400-35758600	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr19:35757400-35758600	Enhancers	Fetal Brain Male	brain
9	chr19:35757400-35758600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr19:35757600-35758400	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr19:35757600-35758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:35757600-35758600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr19:35757600-35758600	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr19:35757600-35758600	Enhancers	Stomach Mucosa	stomach
15	chr19:35757600-35758800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr19:35757600-35758800	Flanking Active TSS	HMEC	breast
17	chr19:35757600-35759000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr19:35757600-35761000	Active TSS	Hela-S3	cervix
19	chr19:35757600-35761000	Active TSS	HSMM	muscle
20	chr19:35757600-35761200	Active TSS	NH-A	brain
21	chr19:35757800-35758400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:35757800-35758400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:35757800-35758600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:35757800-35758600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:35757800-35758600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr19:35757800-35758600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr19:35757800-35758600	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr19:35757800-35758600	Flanking Active TSS	Placenta	Placenta
29	chr19:35757800-35758600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
30	chr19:35757800-35758600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr19:35757800-35758600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:35757800-35758800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr19:35757800-35758800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:35757800-35758800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:35757800-35758800	Flanking Active TSS	Liver	Liver
36	chr19:35757800-35758800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
37	chr19:35757800-35758800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr19:35757800-35759000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:35757800-35759000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:35757800-35759000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr19:35757800-35759000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr19:35757800-35759000	Active TSS	Brain Substantia Nigra	brain
43	chr19:35757800-35760600	Active TSS	Lung	lung
44	chr19:35757800-35760800	Active TSS	Ovary	ovary
45	chr19:35757800-35761000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr19:35757800-35761000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr19:35757800-35761000	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr19:35757800-35761000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:35757800-35761000	Active TSS	HSMMtube	muscle
50	chr19:35758000-35758400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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