Variant report

Variant	rs62119775
Chromosome Location	chr19:18059322-18059323
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	HCFC1	chr19:18058050-18059886	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr19:18058304-18059745	GM12878	blood:	n/a	chr19:18059607-18059617 chr19:18058439-18058448
3	EGR1	chr19:18058897-18059744	K562	blood:	n/a	chr19:18058919-18058929 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18059168-18059177 chr19:18058921-18058934 chr19:18058928-18058941
4	NRF1	chr19:18058531-18059358	H1-hESC	embryonic stem cell:	n/a	chr19:18058920-18058929 chr19:18059169-18059178 chr19:18058665-18058679 chr19:18059167-18059181 chr19:18058889-18058903 chr19:18059164-18059178 chr19:18058927-18058936 chr19:18058814-18058823 chr19:18058809-18058823 chr19:18058667-18058676 chr19:18059167-18059178 chr19:18058812-18058826 chr19:18058892-18058901 chr19:18058665-18058676 chr19:18058812-18058823 chr19:18058812-18058823 chr19:18058838-18058849 chr19:18058987-18058996 chr19:18058892-18058903
5	EGR1	chr19:18058912-18059374	GM12878	blood:	n/a	chr19:18058919-18058929 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18059168-18059177 chr19:18058921-18058934 chr19:18058928-18058941
6	ZBTB7A	chr19:18058615-18059654	K562	blood:	n/a	n/a
7	EGR1	chr19:18057935-18059457	HCT-116	colon:	n/a	chr19:18058919-18058929 chr19:18058714-18058728 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18058893-18058902 chr19:18059168-18059177 chr19:18058712-18058727 chr19:18058666-18058675 chr19:18058813-18058822 chr19:18058921-18058934 chr19:18058928-18058941 chr19:18058737-18058746
8	MXI1	chr19:18057929-18059514	SK-N-SH	brain:	n/a	n/a
9	MAZ	chr19:18058276-18059374	Hela-S3	cervix:	n/a	chr19:18058439-18058448
10	NRF1	chr19:18058129-18059456	SK-N-SH	brain:	n/a	chr19:18058920-18058929 chr19:18059169-18059178 chr19:18058665-18058679 chr19:18059167-18059181 chr19:18058889-18058903 chr19:18059164-18059178 chr19:18058927-18058936 chr19:18058814-18058823 chr19:18058809-18058823 chr19:18058667-18058676 chr19:18059167-18059178 chr19:18058812-18058826 chr19:18058892-18058901 chr19:18058665-18058676 chr19:18058812-18058823 chr19:18058812-18058823 chr19:18058838-18058849 chr19:18058987-18058996 chr19:18058892-18058903
11	EGR1	chr19:18058472-18059375	H1-hESC	embryonic stem cell:	n/a	chr19:18058919-18058929 chr19:18058714-18058728 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18058893-18058902 chr19:18059168-18059177 chr19:18058712-18058727 chr19:18058666-18058675 chr19:18058813-18058822 chr19:18058921-18058934 chr19:18058928-18058941 chr19:18058737-18058746
12	MAX	chr19:18058470-18059326	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr19:18057865-18060070	H1-hESC	embryonic stem cell:	n/a	n/a
14	HA-E2F1	chr19:18058576-18059339	Hela-S3	cervix:	n/a	chr19:18058666-18058675 chr19:18058751-18058761 chr19:18058708-18058719 chr19:18059168-18059177 chr19:18058920-18058929 chr19:18058893-18058902 chr19:18058987-18058996 chr19:18058927-18058936 chr19:18058992-18059004 chr19:18058813-18058822
15	EGR1	chr19:18058457-18059345	ECC-1	luminal epithelium:	n/a	chr19:18058919-18058929 chr19:18058714-18058728 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18058893-18058902 chr19:18059168-18059177 chr19:18058712-18058727 chr19:18058666-18058675 chr19:18058813-18058822 chr19:18058921-18058934 chr19:18058928-18058941 chr19:18058737-18058746
16	EGR1	chr19:18058894-18059342	MCF-7	breast:	n/a	chr19:18058919-18058929 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18059168-18059177 chr19:18058921-18058934 chr19:18058928-18058941
17	EGR1	chr19:18058207-18059442	HCT-116	colon:	n/a	chr19:18058919-18058929 chr19:18058714-18058728 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18058893-18058902 chr19:18059168-18059177 chr19:18058712-18058727 chr19:18058666-18058675 chr19:18058813-18058822 chr19:18058921-18058934 chr19:18058928-18058941 chr19:18058737-18058746
18	MXI1	chr19:18058006-18059362	IMR90	lung:	n/a	n/a
19	ELF1	chr19:18058155-18059388	GM12878	blood:	n/a	chr19:18059082-18059094 chr19:18058920-18058932 chr19:18059175-18059187 chr19:18058451-18058464
20	ZBTB7A	chr19:18058462-18059691	ECC-1	luminal epithelium:	n/a	n/a
21	NRF1	chr19:18058545-18059352	Hela-S3	cervix:	n/a	chr19:18058920-18058929 chr19:18059169-18059178 chr19:18058665-18058679 chr19:18059167-18059181 chr19:18058889-18058903 chr19:18059164-18059178 chr19:18058927-18058936 chr19:18058814-18058823 chr19:18058809-18058823 chr19:18058667-18058676 chr19:18059167-18059178 chr19:18058812-18058826 chr19:18058892-18058901 chr19:18058665-18058676 chr19:18058812-18058823 chr19:18058812-18058823 chr19:18058838-18058849 chr19:18058987-18058996 chr19:18058892-18058903
22	POLR2A	chr19:18058330-18059691	H1-neurons	neurons:	n/a	n/a
23	EGR1	chr19:18058843-18059373	GM12878	blood:	n/a	chr19:18058919-18058929 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18058893-18058902 chr19:18059168-18059177 chr19:18058921-18058934 chr19:18058928-18058941
24	MYC	chr19:18059314-18059412	MCF-7	breast:	n/a	n/a
25	POLR2A	chr19:18058303-18059561	MCF-7	breast:	n/a	n/a
26	MAZ	chr19:18058106-18059666	IMR90	lung:	n/a	chr19:18059607-18059617 chr19:18058439-18058448
27	REST	chr19:18058508-18059498	H1-neurons	neurons:	n/a	n/a
28	ZBTB7A	chr19:18058469-18059615	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr19:18058363-18059673	H1-neurons	neurons:	n/a	n/a
30	EGR1	chr19:18058352-18059600	K562	blood:	n/a	chr19:18058919-18058929 chr19:18058714-18058728 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18058893-18058902 chr19:18059168-18059177 chr19:18058712-18058727 chr19:18058666-18058675 chr19:18058813-18058822 chr19:18058921-18058934 chr19:18058928-18058941 chr19:18058737-18058746
31	POLR2A	chr19:18058650-18059673	Hela-S3	cervix:	n/a	n/a
32	RUNX3	chr19:18058872-18059326	GM12878	blood:	n/a	n/a
33	PAX5	chr19:18058147-18059331	GM12878	blood:	n/a	chr19:18058666-18058675 chr19:18058980-18058999
34	NRF1	chr19:18058505-18059333	K562	blood:	n/a	chr19:18058920-18058929 chr19:18059169-18059178 chr19:18058665-18058679 chr19:18059167-18059181 chr19:18058889-18058903 chr19:18059164-18059178 chr19:18058927-18058936 chr19:18058814-18058823 chr19:18058809-18058823 chr19:18058667-18058676 chr19:18059167-18059178 chr19:18058812-18058826 chr19:18058892-18058901 chr19:18058665-18058676 chr19:18058812-18058823 chr19:18058812-18058823 chr19:18058838-18058849 chr19:18058987-18058996 chr19:18058892-18058903
35	NRF1	chr19:18058498-18059362	GM12878	blood:	n/a	chr19:18058920-18058929 chr19:18059169-18059178 chr19:18058665-18058679 chr19:18059167-18059181 chr19:18058889-18058903 chr19:18059164-18059178 chr19:18058927-18058936 chr19:18058814-18058823 chr19:18058809-18058823 chr19:18058667-18058676 chr19:18059167-18059178 chr19:18058812-18058826 chr19:18058892-18058901 chr19:18058665-18058676 chr19:18058812-18058823 chr19:18058812-18058823 chr19:18058838-18058849 chr19:18058987-18058996 chr19:18058892-18058903
36	MAZ	chr19:18058428-18059554	K562	blood:	n/a	chr19:18058439-18058448

No.	Distal block	Cell Line	Cell type
1	chr19:18058883..18061817-chr19:18083400..18086380,2	K562	blood:
2	chr19:18057024..18060346-chr19:18095045..18097691,3	K562	blood:
3	chr19:18058855..18062679-chr19:18075387..18079032,3	MCF-7	breast:
4	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
5	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
6	chr19:18057353..18059947-chr19:18110814..18113485,3	MCF-7	breast:
7	chr19:18058545..18060351-chr19:18094684..18096854,2	MCF-7	breast:
8	chr19:18057965..18060030-chr19:18157844..18159639,2	K562	blood:
9	chr19:18058787..18061046-chr19:18077855..18080971,5	K562	blood:
10	chr19:18058858..18061007-chr19:18390720..18393623,2	K562	blood:
11	chr19:18052069..18059812-chr19:18106129..18113779,16	K562	blood:
12	chr19:17974807..17978167-chr19:18058036..18060976,4	K562	blood:
13	chr19:18057341..18060009-chr19:18227603..18230383,4	K562	blood:
14	chr19:17969435..17972591-chr19:18056494..18062279,6	K562	blood:
15	chr19:18057090..18059767-chr19:18110634..18113948,3	MCF-7	breast:
16	chr19:17969156..17972643-chr19:18057294..18060299,6	K562	blood:

Variant related genes	Relation type
KCNN1	TF binding region
ENSG00000130522	Chromatin interaction
ENSG00000105642	Chromatin interaction
ENSG00000243455	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000252591	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000105643	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	nsv911214	chr19:17827442-18123965	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv833772	chr19:17965173-18139337	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv911226	chr19:18007077-18075077	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911227	chr19:18007077-18117646	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	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
8	nsv911228	chr19:18038782-18101830	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911229	chr19:18042945-18117646	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	esv3406796	chr19:18057477-18060725	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv3358201	chr19:18058077-18060550	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18058000-18059400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:18058000-18060000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:18058200-18059400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr19:18058200-18059400	Active TSS	HSMM	muscle
5	chr19:18058200-18059600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:18058200-18059600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:18058200-18059800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:18058200-18059800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:18058200-18059800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:18058200-18060000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:18058200-18060000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:18058200-18060000	Active TSS	Aorta	Aorta
13	chr19:18058400-18059400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:18058400-18059400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr19:18058400-18059400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:18058400-18059400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr19:18058400-18059400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:18058400-18059400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:18058400-18059400	Active TSS	Brain Cingulate Gyrus	brain
20	chr19:18058400-18059400	Active TSS	Brain Hippocampus Middle	brain
21	chr19:18058400-18059400	Active TSS	Brain Substantia Nigra	brain
22	chr19:18058400-18059400	Active TSS	Colonic Mucosa	Colon
23	chr19:18058400-18059400	Active TSS	Left Ventricle	heart
24	chr19:18058400-18059400	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr19:18058400-18059400	Active TSS	Small Intestine	intestine
26	chr19:18058400-18059400	Active TSS	HepG2	liver
27	chr19:18058400-18059600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:18058400-18059600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:18058400-18059600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr19:18058400-18059600	Active TSS	Brain Germinal Matrix	brain
31	chr19:18058400-18059600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr19:18058400-18059600	Active TSS	Colon Smooth Muscle	Colon
33	chr19:18058400-18059600	Active TSS	Psoas Muscle	Psoas
34	chr19:18058400-18059600	Active TSS	A549	lung
35	chr19:18058400-18059600	Active TSS	GM12878-XiMat	blood
36	chr19:18058400-18059800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr19:18058400-18059800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:18058400-18059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:18058400-18059800	Active TSS	Rectal Smooth Muscle	rectum
40	chr19:18058400-18059800	Active TSS	Right Atrium	heart
41	chr19:18058400-18059800	Active TSS	Right Ventricle	heart
42	chr19:18058400-18060000	Active TSS	Ovary	ovary
43	chr19:18058600-18059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:18058600-18059400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:18058600-18059400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:18058600-18059400	Enhancers	Primary B cells from cord blood	blood
47	chr19:18058600-18059400	Active TSS	Primary B cells from peripheral blood	blood
48	chr19:18058600-18059400	Weak transcription	Primary T cells from cord blood	blood
49	chr19:18058600-18059400	Active TSS	Primary T cells fromperipheralblood	blood
50	chr19:18058600-18059400	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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