Variant report

Variant	rs575288388
Chromosome Location	chr19:39326020-39326021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39325351-39335703	K562	blood:	n/a	n/a
2	POLR2A	chr19:39326009-39326979	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:39325898-39327104	HCT-116	colon:	n/a	n/a
4	POLR2A	chr19:39325948-39326084	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:39325903-39327016	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:39325224-39327147	GM12891	blood:	n/a	n/a
7	ETS1	chr19:39325938-39327074	A549	lung:	n/a	n/a
8	POLR2A	chr19:39325327-39327188	K562	blood:	n/a	n/a
9	BCLAF1	chr19:39325985-39326542	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:39325991-39326936	GM12878	blood:	n/a	n/a
11	GATA3	chr19:39325989-39326502	MCF-7	breast:	n/a	n/a
12	ATF3	chr19:39325878-39326580	A549	lung:	n/a	n/a
13	BCL3	chr19:39325179-39327051	A549	lung:	n/a	n/a
14	REST	chr19:39326009-39326278	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr19:39325914-39326950	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr19:39325852-39326941	A549	lung:	n/a	n/a
17	POLR2A	chr19:39325875-39326938	HUVEC	blood vessel:	n/a	n/a
18	GATA3	chr19:39325919-39326441	T-47D	breast:	n/a	n/a
19	POLR2A	chr19:39325878-39326521	ECC-1	luminal epithelium:	n/a	n/a
20	TCF12	chr19:39325816-39326620	SK-N-SH	brain:	n/a	n/a
21	PML	chr19:39325902-39327130	K562	blood:	n/a	n/a
22	POLR2A	chr19:39325825-39327117	HepG2	liver:	n/a	n/a
23	FOSL2	chr19:39326000-39326427	A549	lung:	n/a	chr19:39326312-39326324
24	POLR2A	chr19:39324470-39344503	PANC-1	pancreas:	n/a	n/a
25	SIN3AK20	chr19:39325948-39327022	A549	lung:	n/a	n/a
26	SP1	chr19:39325835-39326928	A549	lung:	n/a	n/a
27	POLR2A	chr19:39325896-39330910	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:39325927-39327037	HL-60	blood:	n/a	n/a
29	JUND	chr19:39325898-39326559	SK-N-SH	brain:	n/a	chr19:39326312-39326324
30	GATA2	chr19:39326010-39326307	SH-SY5Y	brain:	n/a	n/a
31	POLR2A	chr19:39325826-39326312	HCT-116	colon:	n/a	n/a
32	POLR2A	chr19:39325377-39335667	A549	lung:	n/a	n/a
33	TCF12	chr19:39325292-39327031	A549	lung:	n/a	n/a
34	PBX3	chr19:39325905-39326994	A549	lung:	n/a	n/a
35	STAT5A	chr19:39326011-39326501	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:39325226-39343915	GM12878	blood:	n/a	n/a
37	FOXA2	chr19:39325919-39326506	A549	lung:	n/a	n/a
38	POLR2A	chr19:39325298-39335742	GM12892	blood:	n/a	n/a
39	MAX	chr19:39325951-39326408	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr19:39313168-39344379	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr19:39325268-39330971	PFSK-1	brain:	n/a	n/a
42	MAX	chr19:39325841-39327002	A549	lung:	n/a	n/a
43	PBX3	chr19:39325911-39326487	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr19:39325983-39327036	Hela-S3	cervix:	n/a	n/a
45	GATA3	chr19:39326010-39326359	MCF-7	breast:	n/a	n/a
46	POLR2A	chr19:39325690-39327058	SK-N-SH	brain:	n/a	n/a
47	SIN3AK20	chr19:39325169-39327064	PANC-1	pancreas:	n/a	n/a
48	FOXA2	chr19:39325906-39326496	A549	lung:	n/a	n/a
49	FOSL2	chr19:39325907-39327129	A549	lung:	n/a	chr19:39326312-39326324
50	ZBTB33	chr19:39326000-39326420	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39221972..39229243-chr19:39319630..39326763,11	K562	blood:
2	chr19:39324931..39327493-chr19:39358939..39361060,2	MCF-7	breast:
3	chr19:39315714..39318484-chr19:39324884..39327703,2	K562	blood:
4	chr19:39218553..39228703-chr19:39324875..39331730,17	MCF-7	breast:
5	chr19:39325997..39327543-chr19:39409428..39411815,2	K562	blood:
6	chr19:39325391..39328182-chr19:39375242..39377449,2	K562	blood:

No data

Variant related genes	Relation type
ECH1	TF binding region
ENSG00000130402	Chromatin interaction
ENSG00000187994	Chromatin interaction
ENSG00000182472	Chromatin interaction
ENSG00000267892	Chromatin interaction
ENSG00000269050	Chromatin interaction
ENSG00000104835	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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv961291	chr19:39324891-39329561	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39322400-39331800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39322600-39326200	Weak transcription	Gastric	stomach
3	chr19:39322600-39326400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:39322600-39326600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:39322600-39327400	Weak transcription	Small Intestine	intestine
6	chr19:39322800-39326200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:39322800-39326400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:39323000-39326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:39323000-39326200	Weak transcription	Fetal Brain Male	brain
10	chr19:39323000-39326200	Weak transcription	Ovary	ovary
11	chr19:39323000-39327200	Weak transcription	Brain Angular Gyrus	brain
12	chr19:39323000-39334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:39323200-39326200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:39323200-39326200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:39323200-39326200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:39323200-39326200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:39323200-39326200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:39323200-39326200	Weak transcription	Brain Germinal Matrix	brain
19	chr19:39323200-39326200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:39323200-39326200	Weak transcription	Fetal Kidney	kidney
21	chr19:39323200-39326200	Weak transcription	Right Ventricle	heart
22	chr19:39323200-39326200	Weak transcription	GM12878-XiMat	blood
23	chr19:39323200-39326200	Weak transcription	Hela-S3	cervix
24	chr19:39323200-39326200	Weak transcription	HMEC	breast
25	chr19:39323200-39326200	Weak transcription	HSMMtube	muscle
26	chr19:39323200-39326200	Weak transcription	NHEK	skin
27	chr19:39323200-39326400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:39323200-39326400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:39323200-39326400	Weak transcription	NHLF	lung
30	chr19:39323200-39326600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:39323200-39326600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr19:39323200-39326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:39323200-39327000	Weak transcription	NHDF-Ad	bronchial
34	chr19:39323200-39327400	Weak transcription	Aorta	Aorta
35	chr19:39323400-39326200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr19:39323400-39326200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:39323400-39326200	Weak transcription	Primary B cells from cord blood	blood
38	chr19:39323400-39326200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr19:39323400-39326200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:39323400-39326200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:39323400-39326200	Weak transcription	Stomach Mucosa	stomach
42	chr19:39323400-39326200	Weak transcription	Dnd41	blood
43	chr19:39323400-39326200	Weak transcription	HUVEC	blood vessel
44	chr19:39323400-39326200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr19:39323400-39326400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:39323400-39326400	Weak transcription	Pancreas	Pancrea
47	chr19:39323400-39326400	Weak transcription	Spleen	Spleen
48	chr19:39323400-39326800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:39323400-39327600	Weak transcription	Right Atrium	heart
50	chr19:39323600-39326200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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