Variant report

Variant	rs34326763
Chromosome Location	chr19:41729713-41729714
allele	C/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	POLR2A	chr19:41729137-41730241	U87	brain:	n/a	n/a
2	POLR2A	chr19:41729271-41729793	ProgFib	skin:	n/a	n/a
3	FOSL1	chr19:41729197-41730112	HCT-116	colon:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
4	JUND	chr19:41729415-41729807	H1-hESC	embryonic stem cell:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
5	FOSL2	chr19:41729189-41730153	SK-N-SH	brain:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
6	POLR2A	chr19:41729205-41730043	HUVEC	blood vessel:	n/a	n/a
7	TEAD4	chr19:41729251-41729801	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr19:41729124-41733421	A549	lung:	n/a	chr19:41732217-41732226 chr19:41729661-41729670 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
9	POLR2A	chr19:41729364-41730114	A549	lung:	n/a	n/a
10	FOS	chr19:41729506-41729780	MCF10A-Er-Src	breast:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729604-41729615 chr19:41729661-41729672 chr19:41729575-41729589
11	JUND	chr19:41729437-41729717	H1-hESC	embryonic stem cell:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
12	MAZ	chr19:41729195-41730446	IMR90	lung:	n/a	chr19:41729661-41729670
13	REST	chr19:41729373-41729742	SK-N-SH	brain:	n/a	chr19:41729432-41729445
14	TEAD4	chr19:41729333-41729858	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr19:41729140-41730146	A549	lung:	n/a	n/a
16	MAFK	chr19:41729494-41729713	Hela-S3	cervix:	n/a	n/a
17	MYC	chr19:41729331-41729889	HUVEC	blood vessel:	n/a	chr19:41729661-41729670
18	RCOR1	chr19:41729675-41729754	HepG2	liver:	n/a	n/a
19	GABPA	chr19:41729187-41730275	A549	lung:	n/a	n/a
20	SP1	chr19:41729045-41730267	A549	lung:	n/a	chr19:41729489-41729500 chr19:41729690-41729699 chr19:41729522-41729536 chr19:41729525-41729536 chr19:41729691-41729705
21	MAZ	chr19:41729470-41729821	Hela-S3	cervix:	n/a	chr19:41729661-41729670
22	EP300	chr19:41729270-41729981	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr19:41729295-41729854	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr19:41729418-41729813	Hela-S3	cervix:	n/a	n/a
25	REST	chr19:41729079-41730856	A549	lung:	n/a	chr19:41729432-41729445
26	TCF12	chr19:41729253-41729947	ECC-1	luminal epithelium:	n/a	n/a
27	GATA3	chr19:41729195-41729984	SK-N-SH	brain:	n/a	chr19:41729604-41729613 chr19:41729660-41729669
28	FOS	chr19:41729508-41729966	MCF10A-Er-Src	breast:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729604-41729615 chr19:41729661-41729672 chr19:41729575-41729589
29	FOS	chr19:41729365-41730336	HUVEC	blood vessel:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729604-41729615 chr19:41729661-41729672 chr19:41729575-41729589
30	FOSL2	chr19:41729094-41730458	A549	lung:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
31	CEBPB	chr19:41729372-41730060	IMR90	lung:	n/a	n/a
32	FOS	chr19:41729462-41729886	MCF10A-Er-Src	breast:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729604-41729615 chr19:41729661-41729672 chr19:41729575-41729589
33	MAX	chr19:41729383-41730153	A549	lung:	n/a	chr19:41729661-41729670
34	JUND	chr19:41729515-41729835	K562	blood:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
35	POLR2A	chr19:41729323-41729916	HCT-116	colon:	n/a	n/a
36	RCOR1	chr19:41729484-41729880	Hela-S3	cervix:	n/a	n/a
37	FOSL1	chr19:41729419-41729768	K562	blood:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
38	TEAD4	chr19:41729270-41729922	HCT-116	colon:	n/a	n/a
39	JUND	chr19:41729186-41730071	HCT-116	colon:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
40	ATF3	chr19:41729124-41730114	A549	lung:	n/a	n/a
41	POLR2A	chr19:41729138-41730240	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr19:41728663-41730153	HUVEC	blood vessel:	n/a	n/a
43	FOSL2	chr19:41729385-41729869	HepG2	liver:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
44	MAX	chr19:41729271-41729872	H1-hESC	embryonic stem cell:	n/a	chr19:41729661-41729670
45	JUND	chr19:41729184-41730133	SK-N-SH	brain:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
46	TEAD4	chr19:41729353-41729790	HepG2	liver:	n/a	n/a
47	NFIC	chr19:41729186-41730273	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr19:41729185-41729948	HUVEC	blood vessel:	n/a	n/a
49	FOSL2	chr19:41729257-41730333	A549	lung:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
50	JUND	chr19:41729196-41730344	A549	lung:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41729266..41732729-chr19:41766701..41770009,7	K562	blood:
2	chr19:41723875..41726777-chr19:41728097..41730585,3	MCF-7	breast:

Variant related genes	Relation type
AXL	TF binding region
ENSG00000269652	TF binding region
ENSG00000105323	Chromatin interaction
ENSG00000167601	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11669668	1.00[ASN][1000 genomes]
rs57178594	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41724400-41733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:41725400-41731800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:41726000-41733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:41726200-41730200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:41726200-41731200	Weak transcription	Fetal Kidney	kidney
6	chr19:41726800-41731400	Enhancers	HepG2	liver
7	chr19:41726800-41731600	Weak transcription	Brain Germinal Matrix	brain
8	chr19:41727000-41730000	Strong transcription	Fetal Intestine Small	intestine
9	chr19:41727200-41730000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:41727200-41731400	Weak transcription	Fetal Intestine Large	intestine
11	chr19:41727800-41730000	Enhancers	Brain Hippocampus Middle	brain
12	chr19:41727800-41731200	Weak transcription	Pancreas	Pancrea
13	chr19:41727800-41731400	Weak transcription	Placenta	Placenta
14	chr19:41728000-41730400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:41728200-41730200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:41728200-41731400	Weak transcription	Brain Anterior Caudate	brain
17	chr19:41728400-41731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:41728400-41731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:41728400-41731400	Weak transcription	Fetal Lung	lung
20	chr19:41728400-41731600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:41728600-41731600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:41728600-41731600	Weak transcription	Brain Substantia Nigra	brain
23	chr19:41728800-41731400	Transcr. at gene 5' and 3'	A549	lung
24	chr19:41729000-41730200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr19:41729000-41730400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:41729000-41731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:41729200-41729800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:41729200-41729800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:41729200-41729800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr19:41729200-41729800	Enhancers	Adipose Nuclei	Adipose
31	chr19:41729200-41729800	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr19:41729200-41729800	Flanking Active TSS	Hela-S3	cervix
33	chr19:41729200-41730000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr19:41729200-41730000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:41729200-41730000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:41729200-41730000	Flanking Active TSS	HMEC	breast
37	chr19:41729200-41730000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr19:41729200-41730200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr19:41729200-41730200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:41729200-41730200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:41729200-41730200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr19:41729200-41730200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:41729200-41730200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:41729200-41730200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:41729200-41730200	Enhancers	Colon Smooth Muscle	Colon
46	chr19:41729200-41730200	Enhancers	Right Ventricle	heart
47	chr19:41729200-41730200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr19:41729200-41730200	Flanking Active TSS	HUVEC	blood vessel
49	chr19:41729200-41730400	Transcr. at gene 5' and 3'	NHEK	skin
50	chr19:41729200-41730600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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