Variant report

Variant	rs7508384
Chromosome Location	chr19:23299602-23299603
allele	A/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	SPI1	chr19:23299498-23299785	GM12891	blood:	n/a	n/a
2	PBX3	chr19:23299580-23299776	GM12878	blood:	n/a	chr19:23299669-23299678 chr19:23299705-23299714
3	SIN3AK20	chr19:23299508-23300322	SK-N-SH	brain:	n/a	n/a
4	SIN3A	chr19:23299534-23300751	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr19:23299457-23300060	MCF-7	breast:	n/a	chr19:23299723-23299732
6	NFYB	chr19:23299581-23299941	K562	blood:	n/a	n/a
7	GATA3	chr19:23299488-23299876	T-47D	breast:	n/a	n/a
8	TAF1	chr19:23299577-23300402	H1-hESC	embryonic stem cell:	n/a	n/a
9	POU2F2	chr19:23299540-23300182	GM12891	blood:	n/a	n/a
10	RAD21	chr19:23299598-23300442	H1-hESC	embryonic stem cell:	n/a	chr19:23299783-23299797 chr19:23299955-23299965
11	SP1	chr19:23299578-23299844	GM12878	blood:	n/a	chr19:23299723-23299733 chr19:23299759-23299768 chr19:23299723-23299732 chr19:23299758-23299770 chr19:23299722-23299734 chr19:23299724-23299733 chr19:23299723-23299733 chr19:23299760-23299769 chr19:23299724-23299733 chr19:23299719-23299733 chr19:23299722-23299734
12	POLR2A	chr19:23299515-23300205	Raji	blood:	n/a	n/a
13	POLR2A	chr19:23299554-23300286	GM18505	blood:	n/a	n/a
14	POLR2A	chr19:23299459-23300640	GM12891	blood:	n/a	n/a
15	POLR2A	chr19:23299591-23300295	ProgFib	skin:	n/a	n/a
16	PBX3	chr19:23299510-23299989	SK-N-SH	brain:	n/a	chr19:23299669-23299678 chr19:23299705-23299714
17	POLR2A	chr19:23299399-23300513	SK-N-MC	brain:	n/a	n/a
18	USF1	chr19:23299541-23299906	SK-N-SH_RA	brain:	n/a	n/a
19	POLR2A	chr19:23299556-23300439	H1-neurons	neurons:	n/a	n/a
20	ELF1	chr19:23299541-23300153	MCF-7	breast:	n/a	chr19:23299808-23299817 chr19:23299806-23299819 chr19:23299807-23299818 chr19:23299839-23299848 chr19:23300042-23300054
21	POLR2A	chr19:23299362-23300564	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr19:23299529-23300257	H1-hESC	embryonic stem cell:	n/a	chr19:23299723-23299733 chr19:23299759-23299768 chr19:23299723-23299732 chr19:23299758-23299770 chr19:23299722-23299734 chr19:23299724-23299733 chr19:23299723-23299733 chr19:23299760-23299769 chr19:23299724-23299733 chr19:23299719-23299733 chr19:23299722-23299734
23	POLR2A	chr19:23299436-23300519	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr19:23299508-23300386	IMR90	lung:	n/a	n/a
25	MAZ	chr19:23299564-23300470	IMR90	lung:	n/a	chr19:23299721-23299731 chr19:23299759-23299769
26	MAX	chr19:23299570-23300152	NB4	blood:	n/a	chr19:23299721-23299731 chr19:23299759-23299769
27	SPI1	chr19:23299559-23299694	K562	blood:	n/a	n/a
28	REST	chr19:23299450-23300627	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr19:23299448-23300662	MCF-7	breast:	n/a	n/a
30	ELF1	chr19:23299543-23300030	MCF-7	breast:	n/a	chr19:23299808-23299817 chr19:23299806-23299819 chr19:23299807-23299818 chr19:23299839-23299848
31	ELF1	chr19:23299591-23300002	GM12878	blood:	n/a	chr19:23299808-23299817 chr19:23299806-23299819 chr19:23299807-23299818 chr19:23299839-23299848
32	SPI1	chr19:23299502-23299791	GM12891	blood:	n/a	n/a
33	POLR2A	chr19:23299573-23300352	GM12892	blood:	n/a	n/a
34	EGR1	chr19:23299553-23299856	H1-hESC	embryonic stem cell:	n/a	chr19:23299717-23299732 chr19:23299723-23299733 chr19:23299718-23299731 chr19:23299718-23299731
35	POLR2A	chr19:23299563-23300321	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr19:23299311-23301143	SK-N-SH	brain:	n/a	n/a
37	HA-E2F1	chr19:23299520-23300089	MCF-7	breast:	n/a	chr19:23299818-23299826 chr19:23299818-23299825 chr19:23299723-23299732 chr19:23299817-23299827 chr19:23299818-23299826
38	GATA2	chr19:23299554-23300304	SH-SY5Y	brain:	n/a	chr19:23300069-23300076
39	POLR2A	chr19:23299514-23300394	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr19:23299554-23300253	SK-N-SH	brain:	n/a	n/a
41	SIN3AK20	chr19:23299564-23300329	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:23299514-23300375	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:23299575-23300218	K562	blood:	n/a	n/a
44	CHD2	chr19:23299572-23300608	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr19:23299518-23300414	H1-neurons	neurons:	n/a	n/a
46	PBX3	chr19:23299504-23299982	SK-N-SH	brain:	n/a	chr19:23299669-23299678 chr19:23299705-23299714

Variant related genes	Relation type
ZNF730	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10405363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4932819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6417215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7507433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34470	chr19:22922549-23659458	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
2	esv34907	chr19:22922549-23683097	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
3	nsv9686	chr19:22989454-23653750	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
4	nsv1058070	chr19:22994261-23315207	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv817826	chr19:23000745-23620632	Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
6	esv3693269	chr19:23000745-23652839	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
7	esv2758491	chr19:23071299-23940467	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
8	nsv1065157	chr19:23091826-23812323	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	nsv543959	chr19:23091826-23812323	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
10	esv3424935	chr19:23111817-23495542	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	esv3504832	chr19:23114495-23397124	Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	esv3504833	chr19:23114495-23397124	Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv469842	chr19:23164234-23322414	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv482669	chr19:23164234-23322414	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv932212	chr19:23170413-23372286	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	esv3413015	chr19:23172466-23416111	Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv833788	chr19:23179045-23328665	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	esv3334703	chr19:23235234-23310623	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	esv3429878	chr19:23246650-23590744	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	esv3410568	chr19:23246670-23590714	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
21	esv3433243	chr19:23249108-23585814	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
22	esv3387823	chr19:23265885-23590028	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
23	nsv1060295	chr19:23276069-23382990	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1061493	chr19:23289066-23419445	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv963133	chr19:23290648-23328122	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv911458	chr19:23297503-23353024	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv963031	chr19:23297529-23301004	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23274600-23299800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:23282200-23299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:23285600-23299800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:23285600-23299800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:23285800-23299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:23291400-23299800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:23299200-23300400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:23299200-23301000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:23299400-23299800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:23299400-23299800	Enhancers	Fetal Brain Male	brain
11	chr19:23299400-23299800	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr19:23299400-23299800	Flanking Active TSS	Dnd41	blood
13	chr19:23299400-23299800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr19:23299400-23300200	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr19:23299400-23300200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr19:23299400-23300400	Active TSS	Primary T cells from cord blood	blood
17	chr19:23299400-23300400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:23299400-23300400	Active TSS	Brain Anterior Caudate	brain
19	chr19:23299400-23300400	Active TSS	Brain Substantia Nigra	brain
20	chr19:23299400-23300400	Active TSS	Fetal Muscle Leg	muscle
21	chr19:23299400-23300400	Active TSS	Right Ventricle	heart
22	chr19:23299400-23300600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:23299400-23300600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:23299400-23300600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:23299400-23300600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:23299400-23300600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:23299400-23300600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr19:23299400-23300600	Active TSS	Fetal Intestine Large	intestine
29	chr19:23299400-23300600	Active TSS	Fetal Intestine Small	intestine
30	chr19:23299400-23300600	Active TSS	Thymus	Thymus
31	chr19:23299400-23300800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:23299400-23300800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:23299400-23300800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr19:23299400-23300800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:23299400-23300800	Active TSS	Fetal Lung	lung
36	chr19:23299400-23300800	Active TSS	Fetal Thymus	thymus
37	chr19:23299400-23301000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr19:23299400-23301000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:23299400-23301000	Active TSS	NH-A	brain
40	chr19:23299400-23301000	Active TSS	Osteobl	bone
41	chr19:23299400-23301200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:23299400-23301200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr19:23299400-23301200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr19:23299400-23301200	Active TSS	Brain Germinal Matrix	brain
45	chr19:23299400-23301400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:23299400-23301600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:23299400-23301800	Active TSS	Fetal Brain Female	brain
48	chr19:23299600-23299800	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr19:23299600-23299800	Active TSS	Primary B cells from cord blood	blood
50	chr19:23299600-23299800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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