Variant report

Variant	rs2756131
Chromosome Location	chr14:103968862-103968863
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103966984..103970771-chr14:103985021..103987400,4	K562	blood:
2	chr14:103966852..103969165-chr14:104004136..104006723,2	MCF-7	breast:
3	chr14:103799655..103801928-chr14:103966389..103970885,4	MCF-7	breast:
4	chr14:103967396..103969946-chr14:103970218..103972376,2	MCF-7	breast:
5	chr14:103967247..103969712-chr14:104012689..104014722,2	MCF-7	breast:
6	chr14:103968661..103971110-chr14:103993920..103995822,2	MCF-7	breast:
7	chr14:103967396..103969451-chr14:104009245..104011145,2	MCF-7	breast:
8	chr14:103962191..103965143-chr14:103967090..103971008,3	MCF-7	breast:
9	chr14:103967683..103970600-chr14:103983071..103986028,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166166	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10149270	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10151139	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11621406	0.94[AFR][1000 genomes]
rs11625988	0.90[AFR][1000 genomes]
rs11849549	1.00[AMR][1000 genomes]
rs1951393	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2065014	0.94[AFR][1000 genomes]
rs2145858	0.92[AFR][1000 genomes]
rs2180992	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs2403175	0.90[AFR][1000 genomes]
rs2403181	0.90[AFR][1000 genomes]
rs2756123	0.85[AFR][1000 genomes]
rs2756125	0.87[AFR][1000 genomes]
rs2756130	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2756133	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2756137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2765045	0.85[AFR][1000 genomes]
rs2765047	0.87[AFR][1000 genomes]
rs2765048	0.87[AFR][1000 genomes]
rs2765050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2765053	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4900576	0.90[AFR][1000 genomes]
rs4906326	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs4906328	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs62007720	0.83[AFR][1000 genomes]
rs6575987	0.82[AFR][1000 genomes]
rs6575989	0.90[AFR][1000 genomes]
rs6575990	0.90[AFR][1000 genomes]
rs6575993	0.94[AFR][1000 genomes]
rs7146717	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149291	1.00[YRI][hapmap]
rs7152150	0.82[AFR][1000 genomes]
rs7153380	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7156000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003497	0.90[AFR][1000 genomes]
rs8004123	1.00[AMR][1000 genomes]
rs8014010	0.92[AFR][1000 genomes]
rs911550	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs911556	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:103943200-103969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:103947600-103972800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:103950400-103978800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:103950600-103979000	Strong transcription	Fetal Intestine Small	intestine
8	chr14:103951600-103972600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:103951600-103972800	Strong transcription	Dnd41	blood
10	chr14:103951600-103976600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:103953000-103972800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:103953800-103977200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr14:103953800-103978800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr14:103956000-103969000	Weak transcription	Small Intestine	intestine
15	chr14:103958200-103978200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:103958800-103980400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:103960000-103978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:103962600-103978400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:103962600-103979000	Weak transcription	Right Atrium	heart
20	chr14:103963600-103978000	Strong transcription	Placenta	Placenta
21	chr14:103965000-103971800	Strong transcription	Primary B cells from cord blood	blood
22	chr14:103965000-103972200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:103965200-103972000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr14:103965200-103978600	Strong transcription	Thymus	Thymus
25	chr14:103965400-103973400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:103965400-103977600	Strong transcription	Primary T cells from cord blood	blood
27	chr14:103965400-103978600	Strong transcription	Fetal Intestine Large	intestine
28	chr14:103965800-103978200	Strong transcription	Left Ventricle	heart
29	chr14:103966000-103972200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:103966000-103973200	Strong transcription	Spleen	Spleen
31	chr14:103966200-103970000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:103966400-103969000	Genic enhancers	Brain Hippocampus Middle	brain
33	chr14:103966400-103971200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:103966400-103971400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:103966400-103978000	Strong transcription	NHEK	skin
36	chr14:103966600-103969400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:103966800-103969000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:103966800-103971200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:103966800-103972200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:103966800-103972800	Strong transcription	Fetal Thymus	thymus
41	chr14:103966800-103972800	Strong transcription	Hela-S3	cervix
42	chr14:103966800-103977000	Strong transcription	NH-A	brain
43	chr14:103967000-103969000	Weak transcription	NHDF-Ad	bronchial
44	chr14:103967000-103969800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:103967000-103969800	Weak transcription	Stomach Mucosa	stomach
46	chr14:103967000-103971000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:103967000-103971800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:103967000-103972000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:103967000-103972000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:103967000-103972200	Strong transcription	A549	lung

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