Variant report

Variant	rs377571205
Chromosome Location	chr19:18530765-18530766
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	ZBTB33	chr19:18530579-18531080	GM12878	blood:	n/a	chr19:18530692-18530707 chr19:18530849-18530859 chr19:18530770-18530780
2	POLR2A	chr19:18530693-18531175	GM12892	blood:	n/a	n/a
3	MAZ	chr19:18529597-18531407	IMR90	lung:	n/a	chr19:18529634-18529643
4	POLR2A	chr19:18529556-18531174	HepG2	liver:	n/a	n/a
5	ZBTB33	chr19:18529901-18531124	SK-N-SH	brain:	n/a	chr19:18530692-18530707 chr19:18530849-18530859 chr19:18530770-18530780
6	MAX	chr19:18529688-18530803	A549	lung:	n/a	n/a
7	POLR2A	chr19:18529931-18531283	HUVEC	blood vessel:	n/a	n/a
8	MAX	chr19:18526925-18531451	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
9	POLR2A	chr19:18530590-18531460	SK-N-MC	brain:	n/a	n/a
10	PAX5	chr19:18529871-18530837	GM12892	blood:	n/a	chr19:18530808-18530817
11	MYC	chr19:18527031-18531008	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
12	TAF1	chr19:18530700-18531017	GM12878	blood:	n/a	n/a
13	ZBTB7A	chr19:18530602-18531128	HepG2	liver:	n/a	chr19:18530792-18530801 chr19:18530843-18530852 chr19:18530872-18530883 chr19:18530871-18530882
14	ZBTB33	chr19:18530700-18531065	K562	blood:	n/a	chr19:18530849-18530859 chr19:18530770-18530780
15	SIN3AK20	chr19:18529899-18531066	SK-N-SH	brain:	n/a	n/a
16	E2F1	chr19:18529895-18530881	Hela-S3	cervix:	n/a	chr19:18530816-18530823 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18530810-18530819 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18530814-18530824
17	POLR2A	chr19:18527111-18531151	Hela-S3	cervix:	n/a	n/a
18	MAX	chr19:18529749-18531238	HepG2	liver:	n/a	n/a
19	MXI1	chr19:18529605-18531473	IMR90	lung:	n/a	chr19:18530381-18530396
20	RCOR1	chr19:18530750-18530942	HepG2	liver:	n/a	n/a
21	EP300	chr19:18529651-18531514	SK-N-SH	brain:	n/a	chr19:18530346-18530362 chr19:18531046-18531062 chr19:18530439-18530448 chr19:18531010-18531026 chr19:18530436-18530445 chr19:18530255-18530271 chr19:18530143-18530159 chr19:18530142-18530158 chr19:18530410-18530419 chr19:18530151-18530160
22	MXI1	chr19:18529969-18531232	HepG2	liver:	n/a	chr19:18530381-18530396
23	MTA3	chr19:18530735-18531292	GM12878	blood:	n/a	n/a
24	BRCA1	chr19:18530672-18530988	GM12878	blood:	n/a	n/a
25	TAF1	chr19:18529811-18531260	HepG2	liver:	n/a	n/a
26	CTCF	chr19:18530620-18530770	GM12871	blood:	n/a	n/a
27	MAX	chr19:18529177-18531013	ECC-1	luminal epithelium:	n/a	chr19:18529211-18529221 chr19:18529634-18529643
28	MAX	chr19:18530696-18531318	H1-hESC	embryonic stem cell:	n/a	n/a
29	HMGN3	chr19:18529390-18531020	K562	blood:	n/a	n/a
30	POLR2A	chr19:18529881-18531097	GM19193	blood:	n/a	n/a
31	MAX	chr19:18529217-18531474	HepG2	liver:	n/a	chr19:18529634-18529643
32	POLR2A	chr19:18530719-18530800	HUVEC	blood vessel:	n/a	n/a
33	CHD2	chr19:18529474-18531203	K562	blood:	n/a	n/a
34	E2F6	chr19:18529346-18531198	K562	blood:	n/a	chr19:18530816-18530823 chr19:18531019-18531028 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18530814-18530824
35	E2F6	chr19:18527005-18531166	K562	blood:	n/a	chr19:18530816-18530823 chr19:18531019-18531028 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18528989-18528998 chr19:18527812-18527824 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18528562-18528577 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18528660-18528672 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18527824-18527833 chr19:18528591-18528600 chr19:18530814-18530824 chr19:18528688-18528697
36	POLR2A	chr19:18530669-18531441	HL-60	blood:	n/a	n/a
37	ZBTB33	chr19:18530395-18531022	HepG2	liver:	n/a	chr19:18530692-18530707 chr19:18530849-18530859 chr19:18530770-18530780
38	RCOR1	chr19:18530726-18531215	GM12878	blood:	n/a	n/a
39	E2F6	chr19:18528956-18530999	Hela-S3	cervix:	n/a	chr19:18530816-18530823 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18528989-18528998 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18530814-18530824
40	ZBTB7A	chr19:18530286-18531286	ECC-1	luminal epithelium:	n/a	chr19:18530792-18530801 chr19:18530843-18530852 chr19:18530872-18530883 chr19:18530871-18530882
41	MAX	chr19:18526904-18531482	A549	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
42	SIN3AK20	chr19:18529750-18530920	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr19:18529664-18531455	GM12892	blood:	n/a	n/a
44	PML	chr19:18530621-18531038	GM12878	blood:	n/a	n/a
45	ZBTB33	chr19:18530653-18530936	HepG2	liver:	n/a	chr19:18530692-18530707 chr19:18530849-18530859 chr19:18530770-18530780
46	MAX	chr19:18529854-18531105	GM12878	blood:	n/a	n/a
47	ZBTB7A	chr19:18529949-18531245	K562	blood:	n/a	chr19:18530129-18530136 chr19:18530792-18530801 chr19:18530843-18530852 chr19:18530872-18530883 chr19:18530871-18530882
48	CHD2	chr19:18529803-18531018	Hela-S3	cervix:	n/a	n/a
49	ZBTB33	chr19:18530596-18531126	GM12878	blood:	n/a	chr19:18530692-18530707 chr19:18530849-18530859 chr19:18530770-18530780
50	EGR1	chr19:18529729-18531023	K562	blood:	n/a	chr19:18530838-18530853 chr19:18530527-18530540 chr19:18530532-18530542 chr19:18530805-18530818

No.	Distal block	Cell Line	Cell type
1	chr19:18313264..18315629-chr19:18528906..18531425,2	MCF-7	breast:
2	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
3	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
4	chr19:18313916..18318092-chr19:18528402..18531529,5	K562	blood:
5	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
6	chr19:18385174..18387255-chr19:18528960..18531893,2	MCF-7	breast:
7	chr19:18530114..18532262-chr19:18631255..18634040,2	MCF-7	breast:
8	chr19:18529108..18532626-chr19:18559227..18562569,3	MCF-7	breast:
9	chr19:18450514..18452261-chr19:18530273..18532416,2	K562	blood:
10	chr19:18449803..18452751-chr19:18530696..18534160,4	MCF-7	breast:
11	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
12	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
13	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
14	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
15	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000130522	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000130518	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats 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 miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
13	esv3399036	chr19:18529177-18531725	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
14	esv3391441	chr19:18529402-18531925	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18528000-18532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:18529600-18532000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:18529800-18531000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:18529800-18531200	Active TSS	Aorta	Aorta
5	chr19:18529800-18531400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:18529800-18531600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:18530000-18530800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr19:18530000-18530800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr19:18530000-18530800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:18530000-18530800	Enhancers	Primary B cells from cord blood	blood
11	chr19:18530000-18530800	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
12	chr19:18530000-18530800	Active TSS	Primary T cells fromperipheralblood	blood
13	chr19:18530000-18530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:18530000-18530800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:18530000-18530800	Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr19:18530000-18530800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:18530000-18530800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:18530000-18530800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:18530000-18530800	Active TSS	Adipose Nuclei	Adipose
20	chr19:18530000-18530800	Active TSS	Brain Anterior Caudate	brain
21	chr19:18530000-18530800	Active TSS	Brain Germinal Matrix	brain
22	chr19:18530000-18530800	Active TSS	Esophagus	oesophagus
23	chr19:18530000-18530800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr19:18530000-18530800	Weak transcription	Fetal Kidney	kidney
25	chr19:18530000-18530800	Active TSS	Fetal Muscle Trunk	muscle
26	chr19:18530000-18530800	Active TSS	Fetal Muscle Leg	muscle
27	chr19:18530000-18530800	Active TSS	Placenta	Placenta
28	chr19:18530000-18530800	Active TSS	Fetal Thymus	thymus
29	chr19:18530000-18530800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:18530000-18530800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr19:18530000-18530800	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr19:18530000-18530800	Active TSS	NHEK	skin
33	chr19:18530000-18531000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:18530000-18531000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:18530000-18531000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr19:18530000-18531000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr19:18530000-18531000	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr19:18530000-18531000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:18530000-18531000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:18530000-18531000	Enhancers	Fetal Brain Male	brain
41	chr19:18530000-18531000	Active TSS	Fetal Stomach	stomach
42	chr19:18530000-18531000	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr19:18530000-18531000	Active TSS	Rectal Smooth Muscle	rectum
44	chr19:18530000-18531000	Active TSS	Osteobl	bone
45	chr19:18530000-18531200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:18530000-18531200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:18530000-18531200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr19:18530000-18531200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:18530000-18531200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:18530000-18531200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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