Variant report

Variant	rs145256151
Chromosome Location	chr19:35758420-35758421
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 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	ATF2	chr19:35758393-35758974	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:35756735-35759378	HCT-116	colon:	n/a	n/a
7	POLR2A	chr19:35754823-35759078	PBDE	blood:	n/a	n/a
8	POLR2A	chr19:35754928-35760887	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:35754084-35759312	PANC-1	pancreas:	n/a	n/a
10	MAZ	chr19:35757475-35759422	K562	blood:	n/a	n/a
11	POLR2A	chr19:35757150-35759016	K562	blood:	n/a	n/a
12	POLR2A	chr19:35757810-35759163	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr19:35757785-35759246	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr19:35754965-35760872	K562	blood:	n/a	n/a
15	YY1	chr19:35757884-35758579	K562	blood:	n/a	n/a
16	ELF1	chr19:35758239-35758828	A549	lung:	n/a	n/a
17	CHD2	chr19:35758217-35759420	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:35757036-35760953	GM18951	blood:	n/a	n/a
19	PBX3	chr19:35757788-35759399	A549	lung:	n/a	n/a
20	POLR2A	chr19:35754917-35759308	HepG2	liver:	n/a	n/a
21	PML	chr19:35758199-35759050	K562	blood:	n/a	n/a
22	POLR2A	chr19:35751612-35760840	K562	blood:	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	HCFC1	chr19:35758407-35759198	K562	blood:	n/a	n/a
29	FOSL2	chr19:35758323-35758989	A549	lung:	n/a	chr19:35758897-35758906
30	POLR2A	chr19:35758325-35759153	HL-60	blood:	n/a	n/a
31	POLR2A	chr19:35754937-35759358	K562	blood:	n/a	n/a
32	MAX	chr19:35757379-35761135	A549	lung:	n/a	chr19:35760929-35760939 chr19:35757438-35757448
33	POLR2A	chr19:35757666-35759365	PFSK-1	brain:	n/a	n/a
34	ZKSCAN1	chr19:35758387-35758427	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr19:35754929-35759928	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:35757885-35759211	U87	brain:	n/a	n/a
37	BCL3	chr19:35758185-35759297	GM12878	blood:	n/a	chr19:35759169-35759182 chr19:35758899-35758908
38	POLR2A	chr19:35755910-35759378	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr19:35758307-35758672	H1-hESC	embryonic stem cell:	n/a	n/a
40	RUNX3	chr19:35758112-35759307	GM12878	blood:	n/a	n/a
41	TEAD4	chr19:35758373-35759033	K562	blood:	n/a	n/a
42	SIX5	chr19:35758097-35759132	A549	lung:	n/a	n/a
43	POLR2A	chr19:35757213-35760885	GM15510	blood:	n/a	n/a
44	ETS1	chr19:35758381-35759268	A549	lung:	n/a	n/a
45	POLR2A	chr19:35756947-35758743	HepG2	liver:	n/a	n/a
46	STAT5A	chr19:35757475-35759095	GM12878	blood:	n/a	chr19:35757994-35758006
47	POLR2A	chr19:35757954-35759317	ProgFib	skin:	n/a	n/a
48	MAX	chr19:35757682-35759361	K562	blood:	n/a	n/a
49	POLR2A	chr19:35754913-35759311	GM12891	blood:	n/a	n/a
50	SMC3	chr19:35758344-35758499	GM12878	blood:	n/a	n/a

No data

(count:24 , 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	chr19:35557704..35558690-chr19:35758364..35759482,3	K562	blood:
19	chr19:35758257..35759090-chr22:20307202..20307771,2	HCT-116	colon:
20	chr19:35606190..35608948-chr19:35758089..35760564,2	MCF-7	breast:
21	chr19:35758351..35760547-chr19:36035244..36036936,2	K562	blood:
22	chr19:35757401..35760609-chr19:35817502..35820242,3	MCF-7	breast:
23	chr19:35757352..35763490-chr19:35798817..35804347,10	MCF-7	breast:
24	chr19:35758155..35760598-chr19:35818136..35820258,3	MCF-7	breast:

No data

Variant related genes	Relation type
USF2	TF binding region
ENSG00000105677	Chromatin interaction
ENSG00000221946	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000126262	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000269303	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000128185	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000266964	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000272333	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	chr19:35757200-35758600	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr19:35757400-35758600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:35757400-35758600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:35757400-35758600	Flanking Active TSS	Brain Anterior Caudate	brain
5	chr19:35757400-35758600	Enhancers	Fetal Brain Male	brain
6	chr19:35757400-35758600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr19:35757600-35758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:35757600-35758600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:35757600-35758600	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr19:35757600-35758600	Enhancers	Stomach Mucosa	stomach
11	chr19:35757600-35758800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr19:35757600-35758800	Flanking Active TSS	HMEC	breast
13	chr19:35757600-35759000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:35757600-35761000	Active TSS	Hela-S3	cervix
15	chr19:35757600-35761000	Active TSS	HSMM	muscle
16	chr19:35757600-35761200	Active TSS	NH-A	brain
17	chr19:35757800-35758600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:35757800-35758600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:35757800-35758600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr19:35757800-35758600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr19:35757800-35758600	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr19:35757800-35758600	Flanking Active TSS	Placenta	Placenta
23	chr19:35757800-35758600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
24	chr19:35757800-35758600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr19:35757800-35758600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:35757800-35758800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr19:35757800-35758800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:35757800-35758800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:35757800-35758800	Flanking Active TSS	Liver	Liver
30	chr19:35757800-35758800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
31	chr19:35757800-35758800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr19:35757800-35759000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:35757800-35759000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:35757800-35759000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr19:35757800-35759000	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr19:35757800-35759000	Active TSS	Brain Substantia Nigra	brain
37	chr19:35757800-35760600	Active TSS	Lung	lung
38	chr19:35757800-35760800	Active TSS	Ovary	ovary
39	chr19:35757800-35761000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr19:35757800-35761000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr19:35757800-35761000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr19:35757800-35761000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:35757800-35761000	Active TSS	HSMMtube	muscle
44	chr19:35758000-35758800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr19:35758000-35759000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:35758000-35759000	Active TSS	Fetal Kidney	kidney
47	chr19:35758000-35759000	Active TSS	NHDF-Ad	bronchial
48	chr19:35758000-35759200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:35758000-35759200	Transcr. at gene 5' and 3'	Right Atrium	heart
50	chr19:35758000-35760800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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