Variant report

Variant	rs149598567
Chromosome Location	chr19:19517467-19517468
allele	A/T
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	SIN3AK20	chr19:19515685-19518134	MCF-7	breast:	n/a	n/a
2	EGR1	chr19:19517053-19517535	H1-hESC	embryonic stem cell:	n/a	chr19:19517316-19517327 chr19:19517167-19517177 chr19:19517262-19517276 chr19:19517315-19517328 chr19:19517277-19517291 chr19:19517162-19517175 chr19:19517184-19517197
3	FOXM1	chr19:19517227-19517612	GM12878	blood:	n/a	n/a
4	MAX	chr19:19515608-19517578	A549	lung:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
5	RFX5	chr19:19517387-19518086	Hela-S3	cervix:	n/a	n/a
6	ZBTB7A	chr19:19516615-19517724	ECC-1	luminal epithelium:	n/a	n/a
7	TBL1XR1	chr19:19517360-19517944	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:19517348-19518616	GM12892	blood:	n/a	n/a
9	YY1	chr19:19517242-19517631	GM12892	blood:	n/a	n/a
10	MAX	chr19:19517244-19517492	K562	blood:	n/a	chr19:19517317-19517326
11	POLR2A	chr19:19516795-19517520	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr19:19515810-19518478	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr19:19515634-19518501	SK-N-SH	brain:	n/a	chr19:19517040-19517049
14	MAX	chr19:19516754-19517591	ECC-1	luminal epithelium:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
15	MXI1	chr19:19515533-19518803	IMR90	lung:	n/a	chr19:19517040-19517049
16	TCF7L2	chr19:19517410-19518383	Hela-S3	cervix:	n/a	chr19:19517813-19517822 chr19:19517799-19517808 chr19:19517800-19517809 chr19:19517796-19517812 chr19:19517796-19517812
17	MAZ	chr19:19517329-19517520	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:19517463-19517469	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:19516013-19517615	HUVEC	blood vessel:	n/a	n/a
20	BCLAF1	chr19:19517251-19518163	GM12878	blood:	n/a	chr19:19517670-19517679
21	ZBTB7A	chr19:19516718-19517636	K562	blood:	n/a	n/a
22	MAX	chr19:19516782-19517480	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
23	CCNT2	chr19:19515966-19517483	K562	blood:	n/a	chr19:19516905-19516914 chr19:19517217-19517226 chr19:19516466-19516475 chr19:19516853-19516862 chr19:19517111-19517120 chr19:19516392-19516401 chr19:19516860-19516869
24	FOXM1	chr19:19517210-19518222	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:19515764-19517712	K562	blood:	n/a	n/a
26	EGR1	chr19:19517066-19517549	MCF-7	breast:	n/a	chr19:19517316-19517327 chr19:19517167-19517177 chr19:19517262-19517276 chr19:19517315-19517328 chr19:19517277-19517291 chr19:19517162-19517175 chr19:19517184-19517197
27	EGR1	chr19:19517090-19517591	K562	blood:	n/a	chr19:19517316-19517327 chr19:19517167-19517177 chr19:19517262-19517276 chr19:19517315-19517328 chr19:19517277-19517291 chr19:19517162-19517175 chr19:19517184-19517197
28	ELF1	chr19:19516916-19517535	K562	blood:	n/a	n/a
29	MYC	chr19:19516012-19517493	NB4	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
30	ELF1	chr19:19516732-19517656	GM12878	blood:	n/a	chr19:19516850-19516862
31	MAZ	chr19:19515334-19518804	IMR90	lung:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
32	MYC	chr19:19517390-19517758	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT5A	chr19:19517362-19517694	GM12878	blood:	n/a	n/a
34	MXI1	chr19:19517291-19517891	K562	blood:	n/a	n/a
35	SIN3AK20	chr19:19517236-19517690	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr19:19516735-19517767	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
37	SIN3AK20	chr19:19516939-19517856	K562	blood:	n/a	n/a
38	NR2F2	chr19:19517195-19517851	K562	blood:	n/a	n/a
39	ESR1	chr19:19517076-19517747	ECC-1	luminal epithelium:	n/a	n/a
40	UBTF	chr19:19517293-19517962	K562	blood:	n/a	n/a
41	MYC	chr19:19515762-19518322	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
42	MAX	chr19:19515806-19517506	NB4	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
43	PML	chr19:19517360-19518196	GM12878	blood:	n/a	n/a
44	MAX	chr19:19515836-19517575	HepG2	liver:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
45	RAD21	chr19:19517429-19518220	HCT-116	colon:	n/a	chr19:19517920-19517939 chr19:19517930-19517944 chr19:19517512-19517526 chr19:19518047-19518059
46	POLR2A	chr19:19517317-19518682	GM12878	blood:	n/a	n/a
47	MAX	chr19:19515936-19517587	ECC-1	luminal epithelium:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
48	JUND	chr19:19517355-19517555	H1-hESC	embryonic stem cell:	n/a	n/a
49	CUX1	chr19:19517344-19518261	K562	blood:	n/a	n/a
50	MAZ	chr19:19515773-19518388	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195

No.	Distal block	Cell Line	Cell type
1	chr19:19515119..19517741-chr19:19568755..19571176,2	MCF-7	breast:
2	chr19:19516568..19518207-chr19:19573514..19577628,3	MCF-7	breast:
3	chr19:19028947..19031173-chr19:19514626..19517474,2	K562	blood:
4	chr19:19515140..19518800-chr19:19574675..19578008,3	K562	blood:
5	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:
6	chr13:93606573..93607451-chr19:19517462..19518161,2	MCF-7	breast:
7	chr19:19517059..19519979-chr19:19556271..19558619,2	MCF-7	breast:
8	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
9	chr19:19477386..19478234-chr19:19517375..19518109,3	MCF-7	breast:
10	chr19:19516170..19518046-chr20:30944497..30946734,2	K562	blood:
11	chr19:19517137..19518642-chr19:19558154..19560322,2	K562	blood:
12	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
13	chr19:19514824..19526614-chr19:19535593..19543548,15	K562	blood:
14	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
15	chr19:19476063..19479194-chr19:19516845..19521061,4	K562	blood:
16	chr19:19454032..19456725-chr19:19515938..19518682,3	K562	blood:
17	chr19:19514840..19518062-chr19:19543803..19546421,4	K562	blood:
18	chr19:19494550..19497983-chr19:19513188..19518336,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267234	TF binding region
ENSG00000171456	Chromatin interaction
ENSG00000207821	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv3360569	chr19:19515477-19518325	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv3411112	chr19:19515802-19518225	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19515400-19517600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:19515600-19517600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:19515600-19517600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:19515600-19517800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:19515600-19517800	Active TSS	Colon Smooth Muscle	Colon
6	chr19:19515600-19517800	Active TSS	Fetal Kidney	kidney
7	chr19:19515600-19518000	Active TSS	Brain Anterior Caudate	brain
8	chr19:19515600-19518200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:19515800-19517600	Active TSS	Brain Germinal Matrix	brain
10	chr19:19515800-19517600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:19515800-19517600	Active TSS	Fetal Stomach	stomach
12	chr19:19515800-19518000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:19515800-19518000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:19515800-19518000	Active TSS	Aorta	Aorta
15	chr19:19515800-19518000	Active TSS	Gastric	stomach
16	chr19:19515800-19518200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr19:19515800-19518200	Active TSS	Ovary	ovary
18	chr19:19515800-19518200	Active TSS	Psoas Muscle	Psoas
19	chr19:19515800-19518800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:19516000-19517600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr19:19516000-19517600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:19516000-19517600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:19516000-19517600	Active TSS	Brain Substantia Nigra	brain
24	chr19:19516000-19517600	Active TSS	Duodenum Mucosa	Duodenum
25	chr19:19516000-19517600	Active TSS	Fetal Brain Female	brain
26	chr19:19516000-19517600	Active TSS	Fetal Lung	lung
27	chr19:19516000-19517600	Active TSS	Placenta Amnion	Placenta Amnion
28	chr19:19516000-19517600	Active TSS	Rectal Smooth Muscle	rectum
29	chr19:19516000-19517600	Active TSS	HSMM	muscle
30	chr19:19516000-19517600	Active TSS	NHDF-Ad	bronchial
31	chr19:19516000-19517800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:19516000-19517800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:19516000-19517800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr19:19516000-19517800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:19516000-19517800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr19:19516000-19517800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr19:19516000-19517800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr19:19516000-19518000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:19516000-19518000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:19516000-19518000	Active TSS	Right Atrium	heart
41	chr19:19516000-19518000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr19:19516000-19518200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:19516000-19518200	Active TSS	Small Intestine	intestine
44	chr19:19516200-19517600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr19:19516200-19517600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:19516200-19517600	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr19:19516200-19517600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr19:19516200-19517600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:19516200-19517600	Active TSS	Muscle Satellite Cultured Cells	--
50	chr19:19516200-19517600	Active TSS	Liver	Liver

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