Variant report

Variant	rs535296356
Chromosome Location	chr19:37262153-37262154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37262124-37263091	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:37262025-37264230	GM12892	blood:	n/a	n/a
3	CBX3	chr19:37262090-37262932	K562	blood:	n/a	n/a
4	POLR2A	chr19:37262123-37263107	GM12878	blood:	n/a	n/a
5	CHD2	chr19:37262031-37264331	H1-hESC	embryonic stem cell:	n/a	chr19:37263916-37263926 chr19:37263749-37263758
6	POU2F2	chr19:37262054-37262909	GM12878	blood:	n/a	n/a
7	RCOR1	chr19:37262080-37263127	IMR90	lung:	n/a	n/a
8	POLR2A	chr19:37262007-37262926	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:37262051-37264279	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr19:37261889-37263903	GM12878	blood:	n/a	n/a
11	GATA1	chr19:37261711-37264425	PBDE	blood:	n/a	chr19:37261876-37261892 chr19:37261876-37261892 chr19:37263962-37263971
12	SP1	chr19:37262042-37262753	GM12878	blood:	n/a	n/a
13	SP1	chr19:37262054-37262770	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:37262102-37264491	H1-hESC	embryonic stem cell:	n/a	n/a
15	GATA3	chr19:37262115-37262447	T-47D	breast:	n/a	n/a
16	NFYB	chr19:37262100-37262775	K562	blood:	n/a	n/a
17	SP1	chr19:37262051-37262711	GM12878	blood:	n/a	n/a
18	IRF4	chr19:37262122-37262693	GM12878	blood:	n/a	n/a
19	FOSL2	chr19:37262127-37262766	HepG2	liver:	n/a	n/a
20	NFYA	chr19:37262148-37262745	K562	blood:	n/a	chr19:37262388-37262406 chr19:37262423-37262441
21	NFYB	chr19:37262038-37262776	GM12878	blood:	n/a	n/a
22	HEY1	chr19:37262134-37263997	K562	blood:	n/a	n/a
23	POLR2A	chr19:37261557-37264490	H1-hESC	embryonic stem cell:	n/a	n/a
24	PAX5	chr19:37262087-37262675	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:37261729-37264342	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr19:37261736-37264347	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:37261848-37264261	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF7L2	chr19:37262026-37263934	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr19:37262128-37262973	PANC-1	pancreas:	n/a	n/a
30	SP1	chr19:37262059-37262720	K562	blood:	n/a	n/a
31	FOXM1	chr19:37262065-37262953	GM12878	blood:	n/a	n/a
32	STAT5A	chr19:37262017-37263512	K562	blood:	n/a	n/a
33	SP1	chr19:37262022-37262823	H1-hESC	embryonic stem cell:	n/a	n/a
34	STAT5A	chr19:37261955-37262235	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36869355..36872280-chr19:37261242..37264152,2	MCF-7	breast:
2	chr19:37255401..37258823-chr19:37260501..37263315,3	K562	blood:
3	chr19:36979208..36981780-chr19:37261367..37264210,2	K562	blood:
4	chr19:37257289..37258823-chr19:37260501..37262217,2	K562	blood:
5	chr19:37253172..37254822-chr19:37261292..37262895,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267260	TF binding region
ENSG00000267363	Chromatin interaction
ENSG00000267309	Chromatin interaction
ENSG00000142065	Chromatin interaction
ENSG00000186017	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	esv1829205	chr19:37252164-37285622	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
16	nsv963041	chr19:37252526-37264177	Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
17	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	esv1827511	chr19:37261867-37283594	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37234000-37262400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:37235200-37262200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr19:37235200-37262400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:37253800-37262400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:37254600-37262400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:37255200-37262200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:37255800-37262400	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr19:37259400-37262200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr19:37259400-37262200	ZNF genes & repeats	K562	blood
10	chr19:37259400-37262400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr19:37259600-37262400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:37260400-37262200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:37260400-37262200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr19:37260400-37262200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:37260600-37262400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:37260600-37265200	ZNF genes & repeats	A549	lung
17	chr19:37260800-37262200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr19:37261000-37262200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:37261600-37262200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:37261600-37262200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:37261600-37262200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:37261600-37262600	Active TSS	Fetal Brain Female	brain
23	chr19:37261600-37264400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:37261600-37264600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:37261800-37262200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:37261800-37262200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr19:37261800-37262200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr19:37261800-37262200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:37261800-37262200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:37261800-37262200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:37261800-37262200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:37261800-37262200	Flanking Active TSS	Liver	Liver
33	chr19:37261800-37262200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr19:37261800-37262200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr19:37261800-37262200	Flanking Active TSS	Fetal Heart	heart
36	chr19:37261800-37262200	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr19:37261800-37262200	Flanking Active TSS	Fetal Stomach	stomach
38	chr19:37261800-37262200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr19:37261800-37262200	Active TSS	Stomach Smooth Muscle	stomach
40	chr19:37261800-37262200	Flanking Active TSS	HUVEC	blood vessel
41	chr19:37261800-37262200	Flanking Active TSS	Osteobl	bone
42	chr19:37261800-37262400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:37261800-37262400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr19:37261800-37262400	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr19:37261800-37262400	ZNF genes & repeats	GM12878-XiMat	blood
46	chr19:37261800-37262600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:37261800-37262600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr19:37261800-37262600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr19:37261800-37262600	Active TSS	Fetal Muscle Trunk	muscle
50	chr19:37261800-37262600	Active TSS	Skeletal Muscle Female	skeletal muscle

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