Variant report

Variant	rs112002232
Chromosome Location	chr14:96975649-96975650
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:96967194..96972735-chr14:96975570..96985371,13	K562	blood:
2	chr14:96975313..96976857-chr14:96978601..96981439,2	MCF-7	breast:
3	chr14:96973732..96976070-chr14:96984297..96985956,2	K562	blood:

Variant related genes	Relation type
ENSG00000260806	Chromatin interaction
ENSG00000090060	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	nsv1043142	chr14:96096263-96978016	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv542177	chr14:96096263-96978016	Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv482589	chr14:96805418-96985830	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active 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 target site	52 gene(s)	inside rSNPs	diseases
5	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv902211	chr14:96864309-96986153	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv1802671	chr14:96942352-97035680	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv1052499	chr14:96974524-97034805	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96970000-96979200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:96970000-96979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:96970000-96984600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:96970000-96987000	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:96970200-96977600	Weak transcription	Aorta	Aorta
6	chr14:96970200-96979400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:96970600-96978400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr14:96970600-96982200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:96970600-96984400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr14:96970600-96987800	Weak transcription	Fetal Stomach	stomach
11	chr14:96970600-96990600	Weak transcription	NH-A	brain
12	chr14:96970600-96991200	Weak transcription	Fetal Kidney	kidney
13	chr14:96970800-96982000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr14:96970800-96987400	Weak transcription	HSMM	muscle
15	chr14:96970800-96988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:96971000-96976600	Weak transcription	Fetal Brain Male	brain
17	chr14:96971200-96978400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:96971200-96981200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:96971200-96987400	Weak transcription	Osteobl	bone
20	chr14:96971400-96979400	Weak transcription	Placenta	Placenta
21	chr14:96971600-96989800	Weak transcription	NHLF	lung
22	chr14:96971800-96977400	Weak transcription	Brain Anterior Caudate	brain
23	chr14:96971800-96977600	Weak transcription	Stomach Mucosa	stomach
24	chr14:96971800-96977800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:96971800-96977800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:96971800-96978200	Weak transcription	Fetal Intestine Small	intestine
27	chr14:96971800-96980600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:96971800-96990800	Weak transcription	HMEC	breast
29	chr14:96971800-96991000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:96972000-96975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:96972000-96984800	Enhancers	Primary T cells from cord blood	blood
32	chr14:96972200-96975800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:96972200-96977800	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:96972200-96977800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:96972200-96978400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr14:96972200-96979000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:96972200-96979200	Weak transcription	Brain Substantia Nigra	brain
38	chr14:96972200-96984200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:96972200-96986400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:96972200-96986600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:96972200-96987800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:96972200-96988200	Weak transcription	Colonic Mucosa	Colon
43	chr14:96972400-96976000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:96972400-96978800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:96972400-96981200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:96972400-96986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:96972400-96986600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:96972400-96987800	Weak transcription	Esophagus	oesophagus
49	chr14:96972400-96987800	Weak transcription	Spleen	Spleen
50	chr14:96972600-96977800	Weak transcription	Fetal Intestine Large	intestine

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