Variant report

Variant	rs199743106
Chromosome Location	chr14:31888488-31888489
allele	-/A
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	HCFC1	chr14:31888131-31890973	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:31888350-31890652	MCF10A-Er-Src	breast:	n/a	n/a
3	ESRRA	chr14:31888472-31890907	GM12878	blood:	n/a	chr14:31888843-31888853 chr14:31888842-31888855 chr14:31888839-31888855 chr14:31888843-31888853
4	MYBL2	chr14:31888358-31891645	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
2	chr14:31861407..31863284-chr14:31887639..31889155,2	K562	blood:
3	chr14:31090018..31093014-chr14:31887951..31890191,2	MCF-7	breast:
4	chr14:31675912..31678861-chr14:31887661..31889789,2	K562	blood:
5	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
6	chr14:31854067..31858154-chr14:31887468..31890013,3	MCF-7	breast:
7	chr14:31675912..31678861-chr14:31887650..31889789,3	K562	blood:

Variant related genes	Relation type
ENSG00000250365	TF binding region
ENSG00000203546	Chromatin interaction
ENSG00000129480	Chromatin interaction
ENSG00000092108	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31863000-31889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:31865800-31888600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:31870800-31888800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:31871000-31888800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:31871200-31888800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:31876000-31889000	Weak transcription	Gastric	stomach
9	chr14:31879000-31888600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:31880000-31888600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:31883200-31888600	Weak transcription	Aorta	Aorta
12	chr14:31884200-31888600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:31884600-31888800	Weak transcription	Small Intestine	intestine
14	chr14:31884600-31889000	Weak transcription	Spleen	Spleen
15	chr14:31885400-31889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:31887000-31888800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr14:31887200-31888600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:31887200-31890000	Active TSS	Hela-S3	cervix
19	chr14:31887400-31888600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:31887400-31888600	Enhancers	Liver	Liver
21	chr14:31887400-31888600	Weak transcription	Ovary	ovary
22	chr14:31887400-31888800	Weak transcription	Left Ventricle	heart
23	chr14:31887400-31889000	Weak transcription	Esophagus	oesophagus
24	chr14:31887400-31889000	Weak transcription	Pancreas	Pancrea
25	chr14:31887400-31890000	Active TSS	NHLF	lung
26	chr14:31887600-31888600	Enhancers	Primary B cells from cord blood	blood
27	chr14:31887600-31888600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:31887600-31888800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:31887600-31888800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:31887600-31890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:31887800-31888600	Weak transcription	Fetal Heart	heart
32	chr14:31887800-31889200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:31887800-31890000	Active TSS	A549	lung
34	chr14:31887800-31890200	Active TSS	Right Atrium	heart
35	chr14:31888000-31888600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:31888000-31888800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr14:31888000-31890000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:31888000-31890000	Active TSS	NHDF-Ad	bronchial
39	chr14:31888200-31888600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr14:31888200-31888600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:31888200-31888600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr14:31888200-31888600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:31888200-31888600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr14:31888200-31888600	Enhancers	Brain Cingulate Gyrus	brain
45	chr14:31888200-31888600	Enhancers	Brain Substantia Nigra	brain
46	chr14:31888200-31888600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:31888200-31888600	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr14:31888200-31888600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr14:31888200-31888600	Flanking Active TSS	NHEK	skin
50	chr14:31888200-31888800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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