Variant report

Variant	rs7144557
Chromosome Location	chr14:105352536-105352537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
2	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
3	chr14:105351476..105354651-chr14:105359301..105361618,3	K562	blood:
4	chr14:105350985..105352976-chr14:105358068..105360801,2	K562	blood:
5	chr14:105348765..105350400-chr14:105351876..105353640,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099814	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12050087	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2582559	0.91[ASN][1000 genomes]
rs2841218	0.87[ASN][1000 genomes]
rs2841229	0.88[ASN][1000 genomes]
rs2841234	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2841279	0.81[EUR][1000 genomes]
rs3001411	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34004095	1.00[AFR][1000 genomes]
rs3742938	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs41314519	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57147900	1.00[AFR][1000 genomes]
rs57804458	1.00[AFR][1000 genomes]
rs58153756	1.00[AFR][1000 genomes]
rs58365272	1.00[AFR][1000 genomes]
rs61316883	1.00[AFR][1000 genomes]
rs61745186	1.00[AFR][1000 genomes]
rs61761195	1.00[AFR][1000 genomes]
rs67605404	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700126	1.00[AFR][1000 genomes]
rs72700128	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72700150	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700152	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700170	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700172	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72700175	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700176	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700183	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72700184	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700185	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700187	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700202	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72716002	1.00[AFR][1000 genomes]
rs72718103	1.00[AFR][1000 genomes]
rs72718104	1.00[AFR][1000 genomes]
rs72718105	1.00[AFR][1000 genomes]
rs8012919	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9788596	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	165 gene(s)	inside rSNPs	diseases
6	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription 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	147 gene(s)	inside rSNPs	diseases
8	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription 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	54 gene(s)	inside rSNPs	diseases
10	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv902418	chr14:105323300-105361934	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv566137	chr14:105332322-105359556	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	94 gene(s)	inside rSNPs	diseases
17	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv566140	chr14:105347488-105359556	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
2	chr14:105339600-105353400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:105339600-105363000	Weak transcription	NH-A	brain
4	chr14:105340000-105353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
6	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:105342800-105356000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:105343000-105356000	Strong transcription	Fetal Intestine Large	intestine
10	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
11	chr14:105343400-105355600	Strong transcription	Colonic Mucosa	Colon
12	chr14:105343600-105356200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:105343800-105356200	Strong transcription	Lung	lung
14	chr14:105344200-105356000	Strong transcription	Pancreas	Pancrea
15	chr14:105345000-105353200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:105346600-105356000	Strong transcription	Ovary	ovary
17	chr14:105347400-105362400	Weak transcription	HepG2	liver
18	chr14:105347600-105353400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:105347800-105353600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:105348000-105355800	Strong transcription	Brain Germinal Matrix	brain
21	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
22	chr14:105348200-105356200	Strong transcription	Fetal Stomach	stomach
23	chr14:105348400-105356000	Strong transcription	Aorta	Aorta
24	chr14:105348800-105358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:105349000-105356000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:105349000-105356000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:105349200-105354600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr14:105349200-105355000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:105349200-105356000	Strong transcription	Gastric	stomach
30	chr14:105349400-105355400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:105349400-105356000	Strong transcription	Right Ventricle	heart
32	chr14:105349400-105356200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:105349400-105359600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:105349600-105354600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:105349600-105354800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:105349600-105355800	Strong transcription	NHEK	skin
37	chr14:105350000-105354600	Strong transcription	Esophagus	oesophagus
38	chr14:105350200-105354200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:105350200-105354600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:105350200-105355200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:105350200-105361200	Weak transcription	Stomach Mucosa	stomach
42	chr14:105350400-105353400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:105350600-105352600	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:105350600-105355400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:105350600-105362000	Weak transcription	Small Intestine	intestine
46	chr14:105351000-105361800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:105351400-105354400	Strong transcription	Brain Hippocampus Middle	brain
48	chr14:105351400-105354800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:105351400-105354800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:105351400-105355000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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