Variant report

Variant	rs113264972
Chromosome Location	chr19:19006999-19007000
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	MXI1	chr19:19004586-19007223	SK-N-SH	brain:	n/a	chr19:19005171-19005186
2	ZBTB7A	chr19:19005463-19007546	ECC-1	luminal epithelium:	n/a	chr19:19006272-19006280 chr19:19007191-19007200 chr19:19006426-19006435 chr19:19006346-19006354 chr19:19005781-19005790 chr19:19007143-19007151
3	POLR2A	chr19:19006286-19007216	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr19:19006574-19007161	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr19:19006402-19007034	HepG2	liver:	n/a	n/a
6	E2F6	chr19:19006554-19007100	K562	blood:	n/a	n/a
7	TAF1	chr19:19006815-19007000	PFSK-1	brain:	n/a	n/a
8	ZBTB7A	chr19:19005601-19007569	ECC-1	luminal epithelium:	n/a	chr19:19006272-19006280 chr19:19007191-19007200 chr19:19006426-19006435 chr19:19006346-19006354 chr19:19005781-19005790 chr19:19007143-19007151
9	USF1	chr19:19006836-19007028	HepG2	liver:	n/a	n/a
10	MAX	chr19:19005760-19006999	ECC-1	luminal epithelium:	n/a	chr19:19006141-19006150 chr19:19006317-19006326 chr19:19006156-19006165 chr19:19006616-19006626
11	CTCF	chr19:19005323-19007033	SK-N-SH	brain:	n/a	chr19:19006274-19006284
12	GABPA	chr19:19006540-19007073	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr19:19006562-19007067	K562	blood:	n/a	n/a
14	ZBTB7A	chr19:19006065-19007191	K562	blood:	n/a	chr19:19006272-19006280 chr19:19006426-19006435 chr19:19006346-19006354 chr19:19007143-19007151
15	TAF1	chr19:19006726-19007099	H1-neurons	neurons:	n/a	n/a
16	MAX	chr19:19005512-19007112	HepG2	liver:	n/a	chr19:19006141-19006150 chr19:19006317-19006326 chr19:19006156-19006165 chr19:19006616-19006626
17	MAX	chr19:19005672-19007013	HepG2	liver:	n/a	chr19:19006141-19006150 chr19:19006317-19006326 chr19:19006156-19006165 chr19:19006616-19006626
18	POLR2A	chr19:19006466-19007028	ECC-1	luminal epithelium:	n/a	n/a
19	YY1	chr19:19006647-19007019	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr19:19006605-19007135	K562	blood:	n/a	n/a
21	POLR2A	chr19:19006674-19007064	HepG2	liver:	n/a	n/a
22	CREB1	chr19:19006841-19007095	A549	lung:	n/a	n/a
23	CCNT2	chr19:19005812-19007125	K562	blood:	n/a	n/a
24	ZBTB7A	chr19:19006992-19007118	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:19006495-19007074	HEK293	kidney:	n/a	n/a
26	HA-E2F1	chr19:19006503-19007076	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:19006618-19007014	A549	lung:	n/a	n/a
28	POLR2A	chr19:19006649-19007090	NB4	blood:	n/a	n/a
29	NRF1	chr19:19006537-19007142	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19005501..19008972-chr19:19028688..19032169,4	K562	blood:
2	chr19:18958703..18961204-chr19:19005451..19007447,2	MCF-7	breast:
3	chr19:19005129..19007826-chr19:19028734..19032982,4	MCF-7	breast:
4	chr19:19004982..19008022-chr19:19042434..19045091,3	K562	blood:
5	chr19:19005183..19007690-chr19:19050687..19053273,2	MCF-7	breast:
6	chr19:18990686..18992579-chr19:19006938..19009413,2	K562	blood:
7	chr19:19006298..19008038-chr19:19034237..19036261,2	K562	blood:
8	chr19:19006401..19008657-chr19:19231143..19233883,2	K562	blood:

Variant related genes	Relation type
GDF1	TF binding region
CERS1	TF binding region
ENSG00000105669	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000269019	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv3340381	chr19:19005752-19008350	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv16767	chr19:19006542-19007176	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv1823390	chr19:19006569-19017777	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19004800-19007200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:19004800-19007800	Active TSS	Brain Substantia Nigra	brain
3	chr19:19004800-19008400	Active TSS	Brain Cingulate Gyrus	brain
4	chr19:19005000-19007200	Active TSS	Brain Anterior Caudate	brain
5	chr19:19005000-19007400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:19005000-19007400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr19:19005000-19007600	Active TSS	Brain Angular Gyrus	brain
8	chr19:19005600-19007400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:19005600-19007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:19005600-19007600	Enhancers	Pancreas	Pancrea
11	chr19:19005800-19007000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:19005800-19007000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:19005800-19007400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:19005800-19007400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:19005800-19007400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:19005800-19007400	Enhancers	Liver	Liver
17	chr19:19005800-19007600	Enhancers	Lung	lung
18	chr19:19006000-19007000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19006000-19007200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:19006000-19007200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:19006000-19007200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:19006000-19007200	Active TSS	Brain Hippocampus Middle	brain
23	chr19:19006000-19007200	Active TSS	Psoas Muscle	Psoas
24	chr19:19006000-19007400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr19:19006000-19007400	Active TSS	A549	lung
26	chr19:19006000-19007400	Active TSS	HepG2	liver
27	chr19:19006000-19007400	Active TSS	NH-A	brain
28	chr19:19006000-19007600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:19006000-19007600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr19:19006000-19007600	Active TSS	HSMM	muscle
31	chr19:19006000-19008000	Active TSS	Fetal Brain Female	brain
32	chr19:19006200-19007000	Flanking Active TSS	Right Ventricle	heart
33	chr19:19006200-19007200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:19006200-19007200	Active TSS	Fetal Muscle Leg	muscle
35	chr19:19006200-19007200	Active TSS	Right Atrium	heart
36	chr19:19006200-19007400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr19:19006200-19007400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr19:19006200-19007400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:19006200-19007400	Weak transcription	Fetal Brain Male	brain
40	chr19:19006200-19007600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:19006200-19008200	Bivalent Enhancer	Spleen	Spleen
42	chr19:19006400-19007200	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr19:19006400-19007400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:19006400-19011000	Weak transcription	Fetal Lung	lung
45	chr19:19006600-19007000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:19006600-19007200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:19006600-19007200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:19006600-19007200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:19006600-19007200	Active TSS	Ovary	ovary
50	chr19:19006600-19007200	Active TSS	Skeletal Muscle Male	skeletal muscle

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