Variant report

Variant	rs4144189
Chromosome Location	chr14:21918876-21918877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21907272..21910219-chr14:21916395..21918950,2	K562	blood:
2	chr14:21918398..21920093-chr14:21933905..21936846,2	K562	blood:
3	chr14:21904676..21909671-chr14:21916010..21919638,5	MCF-7	breast:
4	chr14:21908719..21910349-chr14:21917450..21919306,2	K562	blood:
5	chr14:21897606..21900073-chr14:21917978..21920810,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100888	Chromatin interaction
ENSG00000263621	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1008268	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1008269	0.83[ASN][1000 genomes]
rs10132333	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10134108	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135022	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10137743	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138699	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10139379	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10142478	0.82[JPT][hapmap]
rs10143061	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10146717	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10150329	0.88[ASN][1000 genomes]
rs10151764	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10438064	1.00[CHB][hapmap]
rs1045842	0.82[JPT][hapmap]
rs10782384	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11156996	0.82[JPT][hapmap]
rs11623599	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11623642	0.83[AMR][1000 genomes]
rs11623737	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11624716	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1263790	0.82[JPT][hapmap]
rs1263792	0.82[JPT][hapmap]
rs1263797	0.82[JPT][hapmap]
rs12885503	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1543494	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1952554	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1983768	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1998330	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998332	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1999139	0.82[JPT][hapmap]
rs2007434	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2065096	0.83[AMR][1000 genomes]
rs2146062	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2149749	0.81[ASN][1000 genomes]
rs2181125	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2295865	1.00[CHB][hapmap]
rs2295866	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3762156	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3762157	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3762158	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3762159	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4246991	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982445	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4982446	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6571770	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs6571797	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6571826	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6571843	0.82[JPT][hapmap]
rs7147024	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7148741	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs7152833	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7155123	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7160488	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8004294	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8004388	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs8007893	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8008670	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8009789	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8011945	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8017630	0.83[AMR][1000 genomes]
rs8018369	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8020149	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8022395	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8022755	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs927412	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9322978	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active 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	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21906000-21923400	Weak transcription	Aorta	Aorta
2	chr14:21906200-21919800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:21906200-21921200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:21906200-21921200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:21906200-21921200	Weak transcription	Fetal Brain Female	brain
6	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:21906200-21921400	Weak transcription	Hela-S3	cervix
9	chr14:21906200-21921600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:21906200-21921600	Weak transcription	NHLF	lung
11	chr14:21906200-21922000	Weak transcription	Psoas Muscle	Psoas
12	chr14:21906200-21922400	Weak transcription	Right Atrium	heart
13	chr14:21906200-21922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:21906200-21922400	Weak transcription	Osteobl	bone
15	chr14:21906200-21923000	Weak transcription	Thymus	Thymus
16	chr14:21906200-21923000	Weak transcription	HSMMtube	muscle
17	chr14:21906400-21919800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:21906400-21920000	Weak transcription	Fetal Stomach	stomach
19	chr14:21906400-21920200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:21906400-21920600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:21906400-21921200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:21906400-21921800	Weak transcription	HSMM	muscle
23	chr14:21906400-21922200	Weak transcription	Brain Germinal Matrix	brain
24	chr14:21906400-21922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:21906400-21922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:21906400-21922400	Weak transcription	Placenta	Placenta
27	chr14:21906400-21922400	Weak transcription	Fetal Thymus	thymus
28	chr14:21906400-21922400	Weak transcription	Gastric	stomach
29	chr14:21906400-21922400	Weak transcription	Left Ventricle	heart
30	chr14:21906400-21922400	Weak transcription	Pancreas	Pancrea
31	chr14:21906400-21922400	Weak transcription	Stomach Mucosa	stomach
32	chr14:21906400-21922600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:21906400-21922800	Weak transcription	Adipose Nuclei	Adipose
34	chr14:21906400-21923000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:21906400-21923000	Weak transcription	Lung	lung
36	chr14:21906400-21923400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:21906600-21921000	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:21906600-21921800	Weak transcription	Spleen	Spleen
39	chr14:21906600-21922400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:21907200-21922400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:21909000-21922400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:21909400-21920200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:21909400-21922400	Weak transcription	Esophagus	oesophagus
44	chr14:21909400-21922400	Weak transcription	Right Ventricle	heart
45	chr14:21909400-21923000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:21909400-21923000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:21909600-21922600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:21909600-21923000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:21910000-21922400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:21910600-21920200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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