Variant report

Variant	rs112271431
Chromosome Location	chr14:67948518-67948519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67939344..67942070-chr14:67946929..67950674,3	MCF-7	breast:
2	chr14:67944168..67950756-chr14:67978926..67983400,9	MCF-7	breast:
3	chr14:67945813..67949224-chr14:67990739..67993658,4	MCF-7	breast:
4	chr14:67907067..67911151-chr14:67944659..67948573,6	MCF-7	breast:
5	chr14:67945819..67948998-chr14:67952251..67955708,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction
ENSG00000265993	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv902067	chr14:67935206-67953848	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv526811	chr14:67946912-67949074	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67933000-67954400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:67934600-67950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
4	chr14:67935200-67952200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:67936000-67952000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:67937400-67951600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:67937400-67954800	Weak transcription	Gastric	stomach
8	chr14:67937400-67955000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:67937600-67952000	Strong transcription	Primary T cells from cord blood	blood
10	chr14:67937600-67955000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:67938200-67953400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:67938400-67951800	Weak transcription	Fetal Brain Female	brain
13	chr14:67939400-67952400	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:67939800-67953800	Weak transcription	Primary B cells from cord blood	blood
15	chr14:67940600-67950000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:67940800-67950200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:67942000-67955000	Weak transcription	Esophagus	oesophagus
18	chr14:67942800-67950400	Weak transcription	Lung	lung
19	chr14:67945000-67949400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:67945000-67950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:67945000-67950200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:67945200-67950200	Weak transcription	Psoas Muscle	Psoas
23	chr14:67945200-67950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:67945400-67950200	Weak transcription	Thymus	Thymus
25	chr14:67945400-67955000	Weak transcription	Small Intestine	intestine
26	chr14:67945600-67948600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:67945600-67950000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:67945600-67950000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:67945600-67950800	Weak transcription	NHEK	skin
30	chr14:67945600-67951800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:67945600-67954600	Weak transcription	Colonic Mucosa	Colon
32	chr14:67945600-67954800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:67946600-67948600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:67946600-67949800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:67946600-67950400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:67946600-67950400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:67946600-67950400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:67947000-67948800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:67947000-67949800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:67947000-67950000	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:67947000-67951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:67947000-67954000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:67947000-67958200	Weak transcription	Pancreas	Pancrea
44	chr14:67947200-67948600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:67947200-67949200	Weak transcription	Placenta	Placenta
46	chr14:67947200-67950200	Weak transcription	HSMMtube	muscle
47	chr14:67947200-67950400	Weak transcription	Right Ventricle	heart
48	chr14:67947200-67953800	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr14:67947200-67954800	Strong transcription	Fetal Intestine Small	intestine
50	chr14:67947200-67955000	Weak transcription	Ovary	ovary

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