Variant report

Variant	rs11847028
Chromosome Location	chr14:105864646-105864647
allele	G/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	MAX	chr14:105863400-105866124	MCF-7	breast:	n/a	chr14:105865583-105865594 chr14:105865584-105865594 chr14:105865585-105865592 chr14:105865584-105865593 chr14:105864860-105864870
2	POLR2A	chr14:105864176-105865855	ProgFib	skin:	n/a	n/a
3	TBL1XR1	chr14:105864296-105865073	GM12878	blood:	n/a	n/a
4	REST	chr14:105864369-105864687	K562	blood:	n/a	n/a
5	YY1	chr14:105864522-105864980	GM12891	blood:	n/a	chr14:105864862-105864871
6	YY1	chr14:105864388-105865034	K562	blood:	n/a	chr14:105864862-105864871
7	ZBTB7A	chr14:105864619-105865228	HepG2	liver:	n/a	n/a
8	PML	chr14:105864548-105865038	GM12878	blood:	n/a	n/a
9	SETDB1	chr14:105864277-105864824	U2OS	brain:	n/a	n/a
10	POU2F2	chr14:105864457-105865050	GM12891	blood:	n/a	chr14:105864859-105864871
11	SP1	chr14:105864511-105865100	GM12878	blood:	n/a	chr14:105865036-105865048 chr14:105865037-105865047 chr14:105864858-105864872 chr14:105865036-105865048 chr14:105864794-105864808 chr14:105865038-105865047 chr14:105864863-105864872 chr14:105865037-105865046 chr14:105864862-105864872 chr14:105864861-105864873 chr14:105865037-105865051 chr14:105864861-105864873 chr14:105865037-105865046 chr14:105864862-105864872 chr14:105864663-105864670 chr14:105865037-105865047 chr14:105864863-105864872 chr14:105864862-105864871
12	RELA	chr14:105864320-105865448	GM15510	blood:	n/a	n/a
13	ZEB1	chr14:105864619-105865012	GM12878	blood:	n/a	n/a
14	MXI1	chr14:105864232-105865409	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:105863106-105865466	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr14:105864479-105864969	K562	blood:	n/a	chr14:105864862-105864871
17	FOXM1	chr14:105864564-105865034	GM12878	blood:	n/a	n/a
18	CHD2	chr14:105864499-105865356	GM12878	blood:	n/a	chr14:105865185-105865195
19	ZMIZ1	chr14:105864393-105865011	K562	blood:	n/a	n/a
20	ESRRA	chr14:105863902-105865546	GM12878	blood:	n/a	chr14:105864620-105864633 chr14:105865415-105865428 chr14:105865507-105865519 chr14:105865522-105865531
21	GABPA	chr14:105864566-105865069	H1-hESC	embryonic stem cell:	n/a	chr14:105864849-105864856 chr14:105864862-105864871 chr14:105865038-105865047 chr14:105864826-105864840
22	TAF1	chr14:105864565-105865030	A549	lung:	n/a	n/a
23	HEY1	chr14:105864511-105865021	K562	blood:	n/a	n/a
24	POLR2A	chr14:105864585-105865374	SK-N-SH	brain:	n/a	n/a
25	MAX	chr14:105863967-105865593	ECC-1	luminal epithelium:	n/a	chr14:105865585-105865592 chr14:105865584-105865593 chr14:105864860-105864870
26	SP1	chr14:105864601-105865010	H1-hESC	embryonic stem cell:	n/a	chr14:105864858-105864872 chr14:105864794-105864808 chr14:105864863-105864872 chr14:105864862-105864872 chr14:105864861-105864873 chr14:105864861-105864873 chr14:105864862-105864872 chr14:105864663-105864670 chr14:105864863-105864872 chr14:105864862-105864871
27	HEY1	chr14:105864387-105865496	K562	blood:	n/a	chr14:105865123-105865138
28	POLR2A	chr14:105863634-105865983	K562	blood:	n/a	n/a
29	NRF1	chr14:105864417-105865029	GM12878	blood:	n/a	chr14:105864849-105864856 chr14:105864485-105864494 chr14:105864826-105864837 chr14:105864862-105864871 chr14:105864826-105864840
30	TBP	chr14:105864247-105865066	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:105864414-105865614	MCF-7	breast:	n/a	n/a
32	POLR2A	chr14:105864135-105865486	GM12878	blood:	n/a	n/a
33	YY1	chr14:105864529-105865054	SK-N-SH_RA	brain:	n/a	chr14:105865038-105865047 chr14:105864862-105864871 chr14:105865043-105865052
34	MYC	chr14:105864157-105865593	NB4	blood:	n/a	chr14:105865585-105865592 chr14:105865584-105865593 chr14:105864860-105864870
35	GABPA	chr14:105864556-105865241	K562	blood:	n/a	chr14:105864849-105864856 chr14:105864862-105864871 chr14:105865038-105865047 chr14:105864826-105864840
36	CTCF	chr14:105864637-105865072	Spleen_OC	spleen:	n/a	chr14:105864941-105864954
37	POLR2A	chr14:105864615-105865132	A549	lung:	n/a	n/a
38	MYC	chr14:105864428-105864912	MCF-7	breast:	n/a	chr14:105864860-105864870
39	POLR2A	chr14:105864604-105865133	U87	brain:	n/a	n/a
40	MAX	chr14:105864150-105865404	Hela-S3	cervix:	n/a	chr14:105864860-105864870
41	GABPA	chr14:105864622-105865019	GM12878	blood:	n/a	chr14:105864849-105864856 chr14:105864862-105864871 chr14:105864826-105864840
42	POLR2A	chr14:105864322-105865636	HUVEC	blood vessel:	n/a	n/a
43	TBL1XR1	chr14:105864168-105865000	K562	blood:	n/a	n/a
44	POLR2A	chr14:105864389-105865548	GM12892	blood:	n/a	n/a
45	POLR2A	chr14:105864107-105865768	HUVEC	blood vessel:	n/a	n/a
46	HCFC1	chr14:105864151-105865089	K562	blood:	n/a	n/a
47	POLR2A	chr14:105864317-105865482	MCF10A-Er-Src	breast:	n/a	n/a
48	CHD2	chr14:105864627-105865239	HepG2	liver:	n/a	chr14:105865185-105865195
49	POLR2A	chr14:105864309-105865012	K562	blood:	n/a	n/a
50	TBP	chr14:105864312-105864979	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105791422..105793957-chr14:105861992..105864846,2	K562	blood:
2	chr14:105864340..105865872-chr14:105932267..105934891,2	MCF-7	breast:
3	chr14:105863267..105865321-chr7:155086805..155089493,2	MCF-7	breast:
4	chr14:105863162..105866503-chr14:105955373..105958550,4	MCF-7	breast:
5	chr14:105863668..105866126-chr14:105933833..105938378,4	MCF-7	breast:
6	chr14:105857888..105860115-chr14:105862666..105865103,4	K562	blood:
7	chr14:105863746..105866749-chr17:41464656..41467780,5	K562	blood:
8	chr14:105863414..105866995-chr14:105913665..105917421,4	MCF-7	breast:
9	chr14:105839406..105843538-chr14:105863279..105866861,6	MCF-7	breast:
10	chr14:105862822..105868581-chr14:105954164..105958464,7	MCF-7	breast:
11	chr14:105864036..105864877-chr3:27525398..27526277,2	NB4	blood:
12	chr14:105863766..105866769-chr17:41464654..41467729,6	MCF-7	breast:
13	chr14:105863063..105864847-chr14:105886913..105889442,2	K562	blood:
14	chr14:105862050..105866153-chr14:105956114..105958822,3	K562	blood:
15	chr14:105864068..105864754-chr2:122454619..122455119,2	NB4	blood:
16	chr14:105849372..105852249-chr14:105863098..105866090,2	K562	blood:
17	chr14:105863237..105864780-chr14:105991374..105993761,2	MCF-7	breast:
18	chr14:105861905..105865753-chr14:105884230..105887422,5	K562	blood:
19	chr14:105441981..105444790-chr14:105863308..105866164,2	MCF-7	breast:
20	chr14:105864341..105865330-chr19:29703527..29704213,2	Hela-S3	cervix:
21	chr14:105863749..105866749-chr3:73158573..73161478,4	K562	blood:
22	chr14:105863746..105866766-chr17:41464694..41467780,6	K562	blood:
23	chr14:105861825..105867195-chr14:105938738..105943218,7	MCF-7	breast:

Variant related genes	Relation type
TEX22	TF binding region
ENSG00000033867	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000213145	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000273117	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000242085	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000267498	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000186480	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000179364	Chromatin interaction

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

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

rs_ID	r²[population]
rs3934979	1.00[ASN][1000 genomes]
rs73361071	0.81[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105863600-105865200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:105863800-105866800	Enhancers	Fetal Brain Male	brain
3	chr14:105864000-105865400	Active TSS	Osteobl	bone
4	chr14:105864000-105865600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:105864000-105866400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr14:105864200-105864800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:105864200-105865000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:105864200-105865200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:105864200-105865200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:105864200-105865200	Active TSS	NHLF	lung
11	chr14:105864200-105865400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:105864200-105865400	Active TSS	Aorta	Aorta
13	chr14:105864200-105865600	Active TSS	Fetal Kidney	kidney
14	chr14:105864200-105865600	Active TSS	Ovary	ovary
15	chr14:105864200-105865800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:105864400-105864800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:105864400-105864800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:105864400-105864800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr14:105864400-105864800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr14:105864400-105864800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:105864400-105864800	Flanking Active TSS	HMEC	breast
22	chr14:105864400-105865000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:105864400-105865200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr14:105864400-105865200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:105864400-105865200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:105864400-105865200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:105864400-105865200	Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr14:105864400-105865200	Active TSS	Primary B cells from peripheral blood	blood
29	chr14:105864400-105865200	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr14:105864400-105865200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:105864400-105865200	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr14:105864400-105865200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:105864400-105865200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:105864400-105865200	Active TSS	Liver	Liver
35	chr14:105864400-105865200	Active TSS	Brain Germinal Matrix	brain
36	chr14:105864400-105865200	Active TSS	Brain Hippocampus Middle	brain
37	chr14:105864400-105865200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:105864400-105865200	Active TSS	Brain Substantia Nigra	brain
39	chr14:105864400-105865200	Active TSS	Colonic Mucosa	Colon
40	chr14:105864400-105865200	Active TSS	Duodenum Mucosa	Duodenum
41	chr14:105864400-105865200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr14:105864400-105865200	Active TSS	Fetal Intestine Large	intestine
43	chr14:105864400-105865200	Active TSS	Fetal Intestine Small	intestine
44	chr14:105864400-105865200	Active TSS	Fetal Lung	lung
45	chr14:105864400-105865200	Active TSS	Placenta	Placenta
46	chr14:105864400-105865200	Active TSS	Fetal Stomach	stomach
47	chr14:105864400-105865200	Active TSS	Lung	lung
48	chr14:105864400-105865200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr14:105864400-105865200	Active TSS	Rectal Smooth Muscle	rectum
50	chr14:105864400-105865200	Active TSS	Sigmoid Colon	Sigmoid Colon

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