Variant report

Variant	rs34931504
Chromosome Location	chr19:18058536-18058537
allele	-/C
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	ZBTB7A	chr19:18058174-18058568	K562	blood:	n/a	n/a
4	CTCF	chr19:18058400-18058550	SAEC	small airway:	n/a	n/a
5	TAF1	chr19:18058053-18058911	H1-hESC	embryonic stem cell:	n/a	n/a
6	ELF1	chr19:18058463-18058888	GM12878	blood:	n/a	n/a
7	MXI1	chr19:18058260-18059262	HepG2	liver:	n/a	n/a
8	BHLHE40	chr19:18058341-18059262	GM12878	blood:	n/a	chr19:18059182-18059198
9	MYC	chr19:18058312-18059138	K562	blood:	n/a	chr19:18058439-18058448
10	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
11	CHD2	chr19:18058339-18059236	Hela-S3	cervix:	n/a	chr19:18058988-18058998
12	CTCF	chr19:18058400-18058550	GM12873	blood:	n/a	n/a
13	ELK1	chr19:18058063-18058775	GM12878	blood:	n/a	n/a
14	TBP	chr19:18058158-18058647	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr19:18058400-18058550	GM12869	blood:	n/a	n/a
16	CTCF	chr19:18058436-18058542	MCF-7	breast:	n/a	n/a
17	ELF1	chr19:18058265-18058597	K562	blood:	n/a	chr19:18058451-18058464
18	MXI1	chr19:18058350-18059260	K562	blood:	n/a	n/a
19	SIN3AK20	chr19:18058515-18058875	PFSK-1	brain:	n/a	n/a
20	ZNF143	chr19:18058404-18059265	GM12878	blood:	n/a	chr19:18059084-18059094
21	POLR2A	chr19:18057887-18058638	H1-hESC	embryonic stem cell:	n/a	n/a
22	GABPA	chr19:18058296-18058576	K562	blood:	n/a	n/a
23	POLR2A	chr19:18058031-18058904	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr19:18058410-18058566	GM12891	blood:	n/a	n/a
25	CTCF	chr19:18058420-18058570	AG09309	skin:	n/a	n/a
26	EGR1	chr19:18058436-18058875	MCF-7	breast:	n/a	chr19:18058714-18058728 chr19:18058712-18058727 chr19:18058666-18058675 chr19:18058813-18058822 chr19:18058737-18058746
27	CTCF	chr19:18058480-18058630	GM12872	blood:	n/a	n/a
28	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
29	BHLHE40	chr19:18058291-18058883	K562	blood:	n/a	n/a
30	POLR2A	chr19:18058203-18058616	GM12878	blood:	n/a	n/a
31	BCL3	chr19:18058516-18058907	GM12878	blood:	n/a	chr19:18058846-18058855 chr19:18058697-18058706
32	MXI1	chr19:18057929-18059514	SK-N-SH	brain:	n/a	n/a
33	MAZ	chr19:18058276-18059374	Hela-S3	cervix:	n/a	chr19:18058439-18058448
34	ETS1	chr19:18058508-18058892	K562	blood:	n/a	n/a
35	CTCF	chr19:18058400-18058550	GM12874	blood:	n/a	n/a
36	RELA	chr19:18058389-18059250	GM18951	blood:	n/a	chr19:18058845-18058854 chr19:18058845-18058854
37	CTCF	chr19:18058400-18058550	HepG2	liver:	n/a	n/a
38	SRF	chr19:18058013-18058916	MCF-7	breast:	n/a	chr19:18058236-18058245 chr19:18058234-18058245 chr19:18058233-18058248 chr19:18058751-18058761 chr19:18058236-18058247 chr19:18058234-18058247 chr19:18058230-18058248 chr19:18058235-18058246
39	POLR2A	chr19:18058095-18058744	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:18058048-18058594	H1-hESC	embryonic stem cell:	n/a	n/a
41	E2F4	chr19:18058347-18059269	K562	blood:	n/a	chr19:18058666-18058675 chr19:18058751-18058761 chr19:18059168-18059177 chr19:18058920-18058929 chr19:18058893-18058902 chr19:18058987-18058996 chr19:18058927-18058936 chr19:18058458-18058468 chr19:18058992-18059004 chr19:18058813-18058822
42	CTCF	chr19:18058400-18058550	HCFaa	heart:	n/a	n/a
43	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
44	MAX	chr19:18058264-18059029	MCF-7	breast:	n/a	chr19:18058439-18058448
45	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
46	MAX	chr19:18058470-18059326	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr19:18058400-18058550	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr19:18058440-18058590	HCPEpiC	choroid plexus:	n/a	n/a
49	SIN3AK20	chr19:18058390-18058893	K562	blood:	n/a	n/a
50	POLR2A	chr19:18057865-18060070	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18049354..18052020-chr19:18056652..18058961,3	MCF-7	breast:
2	chr19:18057229..18058563-chr19:18107268..18108242,5	MCF-7	breast:
3	chr19:18056861..18058558-chr19:18107372..18108294,7	K562	blood:
4	chr19:17984874..17987363-chr19:18056604..18058812,2	K562	blood:
5	chr19:18057024..18060346-chr19:18095045..18097691,3	K562	blood:
6	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
7	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
8	chr19:18057353..18059947-chr19:18110814..18113485,3	MCF-7	breast:
9	chr19:18057965..18060030-chr19:18157844..18159639,2	K562	blood:
10	chr19:18052069..18059812-chr19:18106129..18113779,16	K562	blood:
11	chr19:17974807..17978167-chr19:18058036..18060976,4	K562	blood:
12	chr19:18057341..18060009-chr19:18227603..18230383,4	K562	blood:
13	chr19:17969435..17972591-chr19:18056494..18062279,6	K562	blood:
14	chr19:18058378..18059062-chr19:18111827..18112579,2	MCF-7	breast:
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
ENSG00000105643	Chromatin interaction
ENSG00000252591	Chromatin interaction
ENSG00000105642	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000243455	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18057800-18058600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr19:18057800-18058600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:18058000-18058600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr19:18058000-18058600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:18058000-18058600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:18058000-18058600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr19:18058000-18058600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr19:18058000-18058600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr19:18058000-18058600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr19:18058000-18058600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr19:18058000-18058600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr19:18058000-18058600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr19:18058000-18058600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:18058000-18058600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr19:18058000-18058600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:18058000-18058600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr19:18058000-18058600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:18058000-18058600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr19:18058000-18058600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:18058000-18058600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:18058000-18058600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:18058000-18058600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr19:18058000-18058600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr19:18058000-18058600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr19:18058000-18058600	Enhancers	Fetal Brain Male	brain
26	chr19:18058000-18058600	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr19:18058000-18058600	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr19:18058000-18058600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr19:18058000-18058600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:18058000-18058600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr19:18058000-18058600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr19:18058000-18058600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr19:18058000-18058600	Flanking Active TSS	Thymus	Thymus
34	chr19:18058000-18058600	Flanking Active TSS	Hela-S3	cervix
35	chr19:18058000-18058600	Flanking Active TSS	K562	blood
36	chr19:18058000-18058600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr19:18058000-18058600	Flanking Active TSS	NHEK	skin
38	chr19:18058000-18058600	Flanking Active TSS	Osteobl	bone
39	chr19:18058000-18059200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:18058000-18059400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:18058000-18060000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr19:18058200-18058600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr19:18058200-18058600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:18058200-18058600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:18058200-18058600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:18058200-18058600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:18058200-18058600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:18058200-18058600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr19:18058200-18058600	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr19:18058200-18058600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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