Variant report

Variant	rs41436351
Chromosome Location	chr14:31731455-31731456
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	USF1	chr14:31731405-31731591	K562	blood:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
2	MYC	chr14:31731306-31731709	MCF10A-Er-Src	breast:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
3	BHLHE40	chr14:31731165-31731688	HepG2	liver:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
4	HNF4A	chr14:31730927-31731633	HepG2	liver:	n/a	chr14:31731332-31731345 chr14:31731248-31731260 chr14:31731332-31731345 chr14:31731331-31731346 chr14:31731330-31731348 chr14:31731333-31731345
5	FOS	chr14:31731306-31731710	MCF10A-Er-Src	breast:	n/a	chr14:31731609-31731617 chr14:31731610-31731617
6	TEAD4	chr14:31731181-31731613	HepG2	liver:	n/a	n/a
7	EP300	chr14:31730029-31732034	HepG2	liver:	n/a	chr14:31730478-31730492 chr14:31730585-31730594 chr14:31731594-31731603 chr14:31730213-31730227
8	TCF12	chr14:31730959-31731676	ECC-1	luminal epithelium:	n/a	chr14:31731588-31731597 chr14:31731352-31731362
9	CEBPB	chr14:31731101-31731513	HepG2	liver:	n/a	n/a
10	PAX5	chr14:31731203-31731593	GM12878	blood:	n/a	n/a
11	CREB1	chr14:31730740-31731879	HepG2	liver:	n/a	n/a
12	USF1	chr14:31731128-31732073	ECC-1	luminal epithelium:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
13	USF2	chr14:31731139-31731661	GM12878	blood:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501 chr14:31731484-31731495
14	MAX	chr14:31731163-31731692	ECC-1	luminal epithelium:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
15	NFIC	chr14:31731007-31732370	ECC-1	luminal epithelium:	n/a	chr14:31731386-31731403
16	MAX	chr14:31731042-31731659	GM12878	blood:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
17	CEBPB	chr14:31731110-31731610	HepG2	liver:	n/a	n/a
18	CEBPD	chr14:31730997-31731560	HepG2	liver:	n/a	n/a
19	EP300	chr14:31731390-31731773	GM12878	blood:	n/a	chr14:31731594-31731603
20	HNF4A	chr14:31730944-31731683	HepG2	liver:	n/a	chr14:31731332-31731345 chr14:31731248-31731260 chr14:31731332-31731345 chr14:31731331-31731346 chr14:31731330-31731348 chr14:31731333-31731345
21	RAD21	chr14:31730855-31731680	HepG2	liver:	n/a	chr14:31731056-31731065 chr14:31731301-31731311
22	RAD21	chr14:31731059-31731805	HepG2	liver:	n/a	chr14:31731301-31731311
23	FOXM1	chr14:31731006-31732161	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr14:31731056-31732042	ECC-1	luminal epithelium:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
25	CEBPB	chr14:31731129-31732069	ECC-1	luminal epithelium:	n/a	n/a
26	MYBL2	chr14:31730056-31731936	HepG2	liver:	n/a	n/a
27	MAX	chr14:31731303-31731625	Hela-S3	cervix:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
28	MBD4	chr14:31730483-31732362	HepG2	liver:	n/a	n/a
29	SMC3	chr14:31731285-31731639	HepG2	liver:	n/a	n/a
30	FOXA2	chr14:31730866-31731694	HepG2	liver:	n/a	n/a
31	SRF	chr14:31731006-31731505	HepG2	liver:	n/a	n/a
32	RCOR1	chr14:31731160-31731552	Hela-S3	cervix:	n/a	n/a
33	E2F4	chr14:31731330-31731477	MCF10A-Er-Src	breast:	n/a	n/a
34	RXRA	chr14:31730912-31731591	HepG2	liver:	n/a	chr14:31731331-31731347 chr14:31731251-31731260
35	JUND	chr14:31731023-31731730	HepG2	liver:	n/a	chr14:31731609-31731617 chr14:31731610-31731617
36	USF1	chr14:31731028-31731744	HepG2	liver:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
37	JUN	chr14:31731215-31731659	HepG2	liver:	n/a	chr14:31731609-31731617 chr14:31731610-31731617
38	CHD2	chr14:31731062-31731732	GM12878	blood:	n/a	n/a
39	MAX	chr14:31731281-31731841	NB4	blood:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
40	EP300	chr14:31730882-31732261	ECC-1	luminal epithelium:	n/a	chr14:31731594-31731603
41	USF1	chr14:31731093-31731731	ECC-1	luminal epithelium:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
42	TEAD4	chr14:31729786-31732305	HepG2	liver:	n/a	n/a
43	TEAD4	chr14:31731163-31732186	ECC-1	luminal epithelium:	n/a	n/a
44	USF1	chr14:31731277-31731686	A549	lung:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
45	CEBPB	chr14:31731234-31731603	A549	lung:	n/a	n/a
46	CEBPB	chr14:31731249-31731670	MCF-7	breast:	n/a	n/a
47	FOXA1	chr14:31730901-31731845	HepG2	liver:	n/a	n/a
48	NFE2	chr14:31731381-31731548	GM12878	blood:	n/a	chr14:31731486-31731495
49	ARID3A	chr14:31731165-31731697	HepG2	liver:	n/a	n/a
50	MEF2A	chr14:31731256-31731790	GM12878	blood:	n/a	chr14:31731581-31731598

No.	Distal block	Cell Line	Cell type
1	chr14:31675532..31678117-chr14:31730710..31734144,6	MCF-7	breast:
2	chr14:31724753..31726781-chr14:31730030..31732709,2	MCF-7	breast:
3	chr14:31727752..31730526-chr14:31730596..31732491,2	K562	blood:
4	chr14:31721356..31723152-chr14:31729738..31731709,2	MCF-7	breast:
5	chr14:31673985..31677853-chr14:31730006..31735257,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199291	TF binding region
ENSG00000092148	Chromatin interaction
ENSG00000199291	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10141820	0.94[ASN][1000 genomes]
rs12587817	1.00[MEX][hapmap]
rs2378862	1.00[MEX][hapmap]
rs74042191	0.94[ASN][1000 genomes]
rs74042192	0.94[ASN][1000 genomes]
rs74042194	0.94[ASN][1000 genomes]
rs74042197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74042199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31726400-31736000	Enhancers	Liver	Liver
2	chr14:31727200-31735000	Weak transcription	Gastric	stomach
3	chr14:31728200-31731600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:31729400-31736200	Enhancers	Stomach Mucosa	stomach
5	chr14:31730000-31733600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:31730200-31731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:31730200-31732200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:31730200-31733000	Enhancers	NHDF-Ad	bronchial
9	chr14:31730400-31733400	Enhancers	Placenta	Placenta
10	chr14:31730400-31735800	Enhancers	NHLF	lung
11	chr14:31730600-31732000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:31730600-31732200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:31730600-31732400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:31730600-31733200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:31730600-31733800	Enhancers	Fetal Lung	lung
16	chr14:31730600-31734000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:31730600-31734200	Enhancers	Hela-S3	cervix
18	chr14:31730800-31731800	Enhancers	Stomach Smooth Muscle	stomach
19	chr14:31730800-31732000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:31730800-31732200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:31730800-31732200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:31730800-31732200	Enhancers	Esophagus	oesophagus
23	chr14:31730800-31732400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr14:31730800-31732400	Enhancers	Fetal Intestine Small	intestine
25	chr14:31730800-31733000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:31730800-31733200	Enhancers	Right Atrium	heart
27	chr14:31730800-31733400	Enhancers	Adipose Nuclei	Adipose
28	chr14:31730800-31733400	Enhancers	Fetal Muscle Leg	muscle
29	chr14:31730800-31733400	Enhancers	Fetal Stomach	stomach
30	chr14:31730800-31734000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr14:31731000-31731600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr14:31731000-31731600	Flanking Active TSS	HepG2	liver
33	chr14:31731000-31731800	Enhancers	Brain Substantia Nigra	brain
34	chr14:31731000-31731800	Enhancers	Fetal Heart	heart
35	chr14:31731000-31732200	Enhancers	Brain Anterior Caudate	brain
36	chr14:31731000-31732200	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:31731000-31732200	Enhancers	Fetal Intestine Large	intestine
38	chr14:31731000-31732200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:31731000-31732400	Enhancers	Ovary	ovary
40	chr14:31731000-31732400	Enhancers	Psoas Muscle	Psoas
41	chr14:31731000-31732400	Enhancers	NH-A	brain
42	chr14:31731000-31733000	Enhancers	A549	lung
43	chr14:31731000-31733800	Enhancers	Osteobl	bone
44	chr14:31731000-31734000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr14:31731000-31734000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr14:31731000-31734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:31731000-31735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:31731000-31735600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:31731000-31735800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:31731000-31735800	Enhancers	HMEC	breast

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