Variant report

Variant	rs8110936
Chromosome Location	chr19:41730013-41730014
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	POLR2A	chr19:41729137-41730241	U87	brain:	n/a	n/a
2	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
3	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
4	POLR2A	chr19:41729205-41730043	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr19:41729124-41733421	A549	lung:	n/a	chr19:41732217-41732226 chr19:41729661-41729670 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
6	POLR2A	chr19:41729364-41730114	A549	lung:	n/a	n/a
7	MAZ	chr19:41729195-41730446	IMR90	lung:	n/a	chr19:41729661-41729670
8	SIN3AK20	chr19:41729140-41730146	A549	lung:	n/a	n/a
9	GABPA	chr19:41729187-41730275	A549	lung:	n/a	n/a
10	SP1	chr19:41729045-41730267	A549	lung:	n/a	chr19:41729489-41729500 chr19:41729690-41729699 chr19:41729522-41729536 chr19:41729525-41729536 chr19:41729691-41729705
11	REST	chr19:41729079-41730856	A549	lung:	n/a	chr19:41729432-41729445
12	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
13	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
14	CEBPB	chr19:41729372-41730060	IMR90	lung:	n/a	n/a
15	MAX	chr19:41729383-41730153	A549	lung:	n/a	chr19:41729661-41729670
16	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
17	ATF3	chr19:41729124-41730114	A549	lung:	n/a	n/a
18	POLR2A	chr19:41729138-41730240	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr19:41728663-41730153	HUVEC	blood vessel:	n/a	n/a
20	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
21	NFIC	chr19:41729186-41730273	SK-N-SH	brain:	n/a	n/a
22	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
23	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
24	POLR2A	chr19:41724527-41734977	U87	brain:	n/a	n/a
25	JUND	chr19:41729162-41730164	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
26	MAX	chr19:41729139-41730832	A549	lung:	n/a	chr19:41729661-41729670
27	BCL3	chr19:41729074-41730364	A549	lung:	n/a	n/a
28	FOSL1	chr19:41729173-41730166	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
29	POLR2A	chr19:41729054-41730050	HUVEC	blood vessel:	n/a	n/a
30	JUN	chr19:41729374-41730114	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
31	BCL3	chr19:41729163-41730489	A549	lung:	n/a	n/a
32	JUND	chr19:41729100-41730179	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
33	POLR2A	chr19:41729043-41730265	HUVEC	blood vessel:	n/a	n/a
34	TCF12	chr19:41729179-41730143	A549	lung:	n/a	n/a
35	MAFK	chr19:41729435-41730022	IMR90	lung:	n/a	chr19:41729803-41729819 chr19:41729799-41729816
36	SIN3AK20	chr19:41729316-41730105	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr19:41729406-41730196	PANC-1	pancreas:	n/a	n/a
38	EP300	chr19:41729125-41730180	A549	lung:	n/a	n/a
39	SP1	chr19:41729207-41730260	HCT-116	colon:	n/a	chr19:41729489-41729500 chr19:41729690-41729699 chr19:41729522-41729536 chr19:41729525-41729536 chr19:41729691-41729705
40	TCF12	chr19:41729257-41730064	SK-N-SH	brain:	n/a	n/a
41	TCF12	chr19:41729015-41730922	A549	lung:	n/a	n/a
42	JUND	chr19:41729173-41730135	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
43	GATA3	chr19:41729185-41730321	SK-N-SH	brain:	n/a	chr19:41729604-41729613 chr19:41729660-41729669
44	SP1	chr19:41729170-41730521	A549	lung:	n/a	chr19:41729489-41729500 chr19:41729690-41729699 chr19:41729522-41729536 chr19:41729525-41729536 chr19:41729691-41729705
45	TCF12	chr19:41729107-41730246	SK-N-SH	brain:	n/a	n/a
46	ZBTB7A	chr19:41729282-41730013	ECC-1	luminal epithelium:	n/a	n/a
47	GABPA	chr19:41729213-41730306	A549	lung:	n/a	n/a
48	TEAD4	chr19:41729179-41730020	A549	lung:	n/a	n/a
49	JUND	chr19:41729417-41730112	Hela-S3	cervix:	n/a	chr19:41729660-41729672 chr19:41729605-41729615 chr19:41729662-41729670 chr19:41729660-41729667 chr19:41729606-41729614 chr19:41729661-41729672 chr19:41729575-41729589
50	POLR2A	chr19:41729137-41730156	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41723838..41725348-chr19:41729889..41731606,2	K562	blood:
2	chr19:41729266..41732729-chr19:41766701..41770009,7	K562	blood:
3	chr19:41725446..41729347-chr19:41729788..41733704,5	K562	blood:
4	chr19:41723875..41726777-chr19:41728097..41730585,3	MCF-7	breast:

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

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73931457	0.83[AFR][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:91 , 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	chr19:41727200-41731400	Weak transcription	Fetal Intestine Large	intestine
9	chr19:41727800-41731200	Weak transcription	Pancreas	Pancrea
10	chr19:41727800-41731400	Weak transcription	Placenta	Placenta
11	chr19:41728000-41730400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:41728200-41730200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:41728200-41731400	Weak transcription	Brain Anterior Caudate	brain
14	chr19:41728400-41731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:41728400-41731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:41728400-41731400	Weak transcription	Fetal Lung	lung
17	chr19:41728400-41731600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:41728600-41731600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:41728600-41731600	Weak transcription	Brain Substantia Nigra	brain
20	chr19:41728800-41731400	Transcr. at gene 5' and 3'	A549	lung
21	chr19:41729000-41730200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr19:41729000-41730400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:41729000-41731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:41729200-41730200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr19:41729200-41730200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:41729200-41730200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:41729200-41730200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr19:41729200-41730200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:41729200-41730200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:41729200-41730200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:41729200-41730200	Enhancers	Colon Smooth Muscle	Colon
32	chr19:41729200-41730200	Enhancers	Right Ventricle	heart
33	chr19:41729200-41730200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr19:41729200-41730200	Flanking Active TSS	HUVEC	blood vessel
35	chr19:41729200-41730400	Transcr. at gene 5' and 3'	NHEK	skin
36	chr19:41729200-41730600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:41729200-41730600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:41729200-41730600	Flanking Active TSS	NH-A	brain
39	chr19:41729200-41731400	Genic enhancers	Fetal Stomach	stomach
40	chr19:41729200-41731600	Transcr. at gene 5' and 3'	HSMM	muscle
41	chr19:41729200-41731800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:41729200-41731800	Transcr. at gene 5' and 3'	Osteobl	bone
43	chr19:41729200-41732000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
44	chr19:41729200-41732800	Transcr. at gene 5' and 3'	NHLF	lung
45	chr19:41729400-41730200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:41729400-41730200	Enhancers	Fetal Heart	heart
47	chr19:41729400-41730200	Genic enhancers	Gastric	stomach
48	chr19:41729400-41730400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:41729400-41730800	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr19:41729400-41731600	Genic enhancers	Fetal Muscle Leg	muscle

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