Variant report

Variant	rs71417949
Chromosome Location	chr14:31666451-31666452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31661874..31669449-chr14:31675207..31678992,11	MCF-7	breast:
2	chr14:31665590..31668355-chr14:31670115..31671744,2	MCF-7	breast:
3	chr14:31662672..31665414-chr14:31666096..31668689,4	K562	blood:
4	chr14:31666318..31667928-chr14:31887002..31889719,2	K562	blood:

Variant related genes	Relation type
ENSG00000250365	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000129493	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11626909	1.00[AFR][1000 genomes]
rs12879008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12879929	1.00[AFR][1000 genomes]
rs12885080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12885886	1.00[AFR][1000 genomes]
rs35832522	1.00[AFR][1000 genomes]
rs36036776	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31637200-31675000	Weak transcription	Gastric	stomach
2	chr14:31638800-31672000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:31640800-31674000	Weak transcription	Fetal Brain Male	brain
4	chr14:31643200-31675000	Weak transcription	Esophagus	oesophagus
5	chr14:31643400-31675000	Weak transcription	Spleen	Spleen
6	chr14:31644800-31675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:31644800-31675000	Weak transcription	Pancreas	Pancrea
8	chr14:31645600-31675000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:31646600-31674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:31647400-31667200	Weak transcription	Brain Substantia Nigra	brain
11	chr14:31648000-31674800	Weak transcription	Thymus	Thymus
12	chr14:31648200-31666800	Weak transcription	Brain Anterior Caudate	brain
13	chr14:31648200-31670200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:31648200-31671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:31651000-31674800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:31654400-31674800	Weak transcription	Colonic Mucosa	Colon
17	chr14:31654600-31671800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:31655000-31674400	Weak transcription	Fetal Brain Female	brain
19	chr14:31655200-31666600	Weak transcription	Brain Angular Gyrus	brain
20	chr14:31656800-31669400	Weak transcription	Lung	lung
21	chr14:31659000-31671800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:31659800-31673800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:31660200-31666800	Weak transcription	Hela-S3	cervix
24	chr14:31660200-31669200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:31660200-31675000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:31660600-31674200	Weak transcription	Brain Germinal Matrix	brain
27	chr14:31660800-31675000	Weak transcription	Fetal Thymus	thymus
28	chr14:31661400-31669000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:31661600-31669200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:31663400-31667600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:31663600-31669800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:31663800-31667600	Enhancers	Liver	Liver
33	chr14:31664200-31673800	Genic enhancers	HepG2	liver
34	chr14:31664400-31669000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:31664400-31674800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:31664400-31675000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:31664600-31666600	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:31664600-31666800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:31664600-31667800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:31664600-31668200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:31664600-31669400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:31664600-31670000	Weak transcription	Adipose Nuclei	Adipose
43	chr14:31664600-31672200	Weak transcription	Fetal Kidney	kidney
44	chr14:31664600-31673800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:31664600-31674000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:31664800-31666600	Strong transcription	Fetal Intestine Small	intestine
47	chr14:31664800-31666800	Strong transcription	Fetal Lung	lung
48	chr14:31665000-31666600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:31665000-31666600	Strong transcription	Fetal Stomach	stomach
50	chr14:31665000-31667000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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