Variant report

Variant	rs570807970
Chromosome Location	chr19:36628204-36628205
allele	C/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	POLR2A	chr19:36627753-36628267	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr19:36627657-36628485	MCF-7	breast:	n/a	n/a
3	MAX	chr19:36627735-36628349	ECC-1	luminal epithelium:	n/a	n/a
4	GATA3	chr19:36627783-36628491	MCF-7	breast:	n/a	n/a
5	FOS	chr19:36627898-36628280	Hela-S3	cervix:	n/a	chr19:36628062-36628073
6	RCOR1	chr19:36627804-36628481	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr19:36627492-36628249	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr19:36627577-36628301	A549	lung:	n/a	n/a
9	MAX	chr19:36627655-36628445	ECC-1	luminal epithelium:	n/a	n/a
10	JUND	chr19:36627588-36628448	SK-N-SH	brain:	n/a	chr19:36628062-36628073 chr19:36627683-36627690
11	SIN3AK20	chr19:36627618-36628471	A549	lung:	n/a	n/a
12	NR2F2	chr19:36627576-36628444	MCF-7	breast:	n/a	n/a
13	NR2F2	chr19:36627659-36628419	MCF-7	breast:	n/a	n/a
14	JUND	chr19:36627791-36628365	A549	lung:	n/a	chr19:36628062-36628073
15	CEBPB	chr19:36627800-36628258	Hela-S3	cervix:	n/a	n/a
16	ZNF217	chr19:36627853-36628339	MCF-7	breast:	n/a	n/a
17	EP300	chr19:36627661-36628351	A549	lung:	n/a	n/a
18	FOS	chr19:36627623-36628303	MCF10A-Er-Src	breast:	n/a	chr19:36628062-36628073 chr19:36627683-36627690
19	TBP	chr19:36627767-36628308	Hela-S3	cervix:	n/a	n/a
20	FOSL2	chr19:36627475-36628442	A549	lung:	n/a	chr19:36627683-36627690
21	JUND	chr19:36627740-36628440	MCF-7	breast:	n/a	chr19:36628062-36628073
22	JUN	chr19:36627763-36628445	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr19:36627714-36628492	PANC-1	pancreas:	n/a	n/a
24	FOSL2	chr19:36627841-36628344	SK-N-SH	brain:	n/a	n/a
25	PBX3	chr19:36627840-36628405	SK-N-SH	brain:	n/a	n/a
26	MAX	chr19:36627849-36628246	Hela-S3	cervix:	n/a	n/a
27	MAX	chr19:36627139-36628373	Hela-S3	cervix:	n/a	n/a
28	MAX	chr19:36627714-36628374	MCF-7	breast:	n/a	n/a
29	SIN3AK20	chr19:36627522-36628515	MCF-7	breast:	n/a	n/a
30	NFIC	chr19:36627741-36628392	ECC-1	luminal epithelium:	n/a	n/a
31	PBX3	chr19:36627867-36628247	SK-N-SH	brain:	n/a	n/a
32	STAT3	chr19:36627212-36628331	MCF10A-Er-Src	breast:	n/a	chr19:36627871-36627882
33	GATA3	chr19:36627802-36628274	MCF-7	breast:	n/a	n/a
34	JUND	chr19:36627766-36628346	Hela-S3	cervix:	n/a	chr19:36628062-36628073
35	BACH1	chr19:36628136-36628270	K562	blood:	n/a	n/a
36	FOS	chr19:36627664-36628281	MCF10A-Er-Src	breast:	n/a	chr19:36628062-36628073 chr19:36627683-36627690
37	MYC	chr19:36627816-36628330	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr19:36627908-36628287	HUVEC	blood vessel:	n/a	chr19:36628062-36628073
39	STAT3	chr19:36627564-36628228	MCF10A-Er-Src	breast:	n/a	chr19:36627871-36627882
40	POLR2A	chr19:36627813-36628228	Hela-S3	cervix:	n/a	n/a
41	FOSL2	chr19:36627766-36628318	MCF-7	breast:	n/a	n/a
42	TCF12	chr19:36627648-36628415	ECC-1	luminal epithelium:	n/a	chr19:36627717-36627724
43	SP1	chr19:36627511-36628578	A549	lung:	n/a	n/a
44	MYC	chr19:36627612-36628282	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr19:36627738-36628527	PANC-1	pancreas:	n/a	n/a
46	GTF2F1	chr19:36627699-36628288	Hela-S3	cervix:	n/a	n/a
47	TCF12	chr19:36627790-36628454	MCF-7	breast:	n/a	n/a
48	FOSL1	chr19:36627599-36628493	HCT-116	colon:	n/a	chr19:36627683-36627690
49	HDAC2	chr19:36627797-36628398	MCF-7	breast:	n/a	n/a
50	ATF3	chr19:36627570-36628569	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36605008..36606623-chr19:36627761..36629746,2	K562	blood:
2	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
3	chr19:36628146..36630638-chr19:37017222..37019646,2	K562	blood:
4	chr19:36618747..36620839-chr19:36626381..36628843,2	K562	blood:
5	chr19:36627567..36628266-chr3:119813840..119814541,2	Hela-S3	cervix:

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000228629	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36619600-36630200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:36619800-36630000	Weak transcription	Fetal Thymus	thymus
3	chr19:36619800-36630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:36622600-36629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:36623600-36630200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:36623600-36630200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:36623800-36629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:36623800-36630400	Weak transcription	Lung	lung
9	chr19:36624000-36630200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:36624200-36630200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:36624600-36629600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:36624600-36630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:36626200-36628800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr19:36626200-36629600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:36626600-36630200	Weak transcription	Right Ventricle	heart
16	chr19:36626600-36630400	Weak transcription	Esophagus	oesophagus
17	chr19:36626600-36630400	Weak transcription	Gastric	stomach
18	chr19:36626800-36628400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr19:36627000-36628600	Enhancers	Stomach Mucosa	stomach
20	chr19:36627200-36628400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:36627200-36628400	Enhancers	HUVEC	blood vessel
22	chr19:36627200-36628400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr19:36627600-36628400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:36627600-36628400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:36627600-36628400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:36627600-36628400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:36627600-36628400	Enhancers	Fetal Intestine Small	intestine
28	chr19:36627600-36628400	Enhancers	GM12878-XiMat	blood
29	chr19:36627600-36628400	Enhancers	NH-A	brain
30	chr19:36627600-36628600	Flanking Active TSS	A549	lung
31	chr19:36627800-36628400	Enhancers	Fetal Muscle Leg	muscle
32	chr19:36628000-36628400	Enhancers	Osteobl	bone
33	chr19:36628000-36628800	Enhancers	Duodenum Mucosa	Duodenum
34	chr19:36628000-36630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:36628000-36630000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:36628000-36630000	Enhancers	HMEC	breast
37	chr19:36628000-36630200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:36628000-36630200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:36628000-36630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:36628000-36630200	Weak transcription	Left Ventricle	heart
41	chr19:36628000-36630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:36628200-36628400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:36628200-36628400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:36628200-36628400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr19:36628200-36628400	Enhancers	NHDF-Ad	bronchial
46	chr19:36628200-36628600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr19:36628200-36628600	Enhancers	NHEK	skin
48	chr19:36628200-36628800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr19:36628200-36629600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:36628200-36630000	Weak transcription	Stomach Smooth Muscle	stomach

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