Variant report

Variant	rs10444696
Chromosome Location	chr14:31460280-31460281
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31458647..31460710-chr14:31463564..31465601,2	K562	blood:
2	chr14:31458519..31461343-chr14:31465487..31467458,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10135412	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10138011	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10138452	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10140025	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10140238	0.85[ASN][1000 genomes]
rs10145545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10147690	0.91[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10151219	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1033559	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483357	0.83[CHB][hapmap]
rs10872848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11621991	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12019004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12436401	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12590617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12884687	0.90[ASN][1000 genomes]
rs17448194	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179698	0.96[ASN][1000 genomes]
rs179699	0.96[ASN][1000 genomes]
rs179701	0.96[ASN][1000 genomes]
rs179702	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs179704	0.96[ASN][1000 genomes]
rs179705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs179706	0.94[ASN][1000 genomes]
rs179707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs179709	0.94[ASN][1000 genomes]
rs179710	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs179711	0.85[ASN][1000 genomes]
rs179712	0.94[ASN][1000 genomes]
rs179714	0.94[ASN][1000 genomes]
rs179717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs179718	0.94[ASN][1000 genomes]
rs179720	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179721	0.93[ASN][1000 genomes]
rs179722	0.92[ASN][1000 genomes]
rs179723	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs179725	0.90[ASN][1000 genomes]
rs179726	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs179731	0.90[ASN][1000 genomes]
rs179733	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs179734	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs179736	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs179737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs179743	0.83[ASN][1000 genomes]
rs179744	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1884057	0.90[ASN][1000 genomes]
rs2024662	0.97[ASN][1000 genomes]
rs2144040	0.90[ASN][1000 genomes]
rs2179934	0.90[ASN][1000 genomes]
rs2273171	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.80[MKK][hapmap]
rs2378813	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28535014	0.90[ASN][1000 genomes]
rs28648046	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3898581	0.90[ASN][1000 genomes]
rs4340230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4981811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4981812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571369	0.83[CHB][hapmap]
rs6571380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs66463317	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67209135	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67648672	0.80[EUR][1000 genomes]
rs7143488	0.88[ASN][1000 genomes]
rs7149411	0.89[ASN][1000 genomes]
rs7150581	0.93[ASN][1000 genomes]
rs7150642	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7153141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7154042	0.90[ASN][1000 genomes]
rs7155894	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs72668364	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72668370	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7350754	0.90[ASN][1000 genomes]
rs766146	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8018402	0.87[ASN][1000 genomes]
rs9322865	0.95[CHB][hapmap]
rs9322866	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap]
rs9322869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3411274	chr14:31442250-31460681	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10444696	HECTD1	cis	cerebellum	SCAN
rs10444696	C14orf102	trans	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
3	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:31442400-31461400	Weak transcription	Left Ventricle	heart
6	chr14:31442400-31494400	Weak transcription	Gastric	stomach
7	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:31443600-31462200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:31444200-31464000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:31444400-31460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:31445000-31460600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:31446600-31461600	Weak transcription	Fetal Muscle Leg	muscle
14	chr14:31449400-31460800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:31451200-31464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:31452000-31460400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:31452200-31460600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:31453800-31460600	Weak transcription	Primary B cells from cord blood	blood
19	chr14:31454800-31462800	Weak transcription	Fetal Intestine Small	intestine
20	chr14:31455200-31466400	Weak transcription	Primary T cells from cord blood	blood
21	chr14:31455600-31460800	Weak transcription	Small Intestine	intestine
22	chr14:31456000-31464400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:31456000-31465200	Weak transcription	Brain Angular Gyrus	brain
24	chr14:31457000-31461000	Genic enhancers	HepG2	liver
25	chr14:31457000-31461200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:31457200-31460600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:31457200-31465000	Weak transcription	Pancreas	Pancrea
28	chr14:31457200-31467600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:31457400-31467200	Weak transcription	Dnd41	blood
30	chr14:31457600-31464200	Weak transcription	Fetal Lung	lung
31	chr14:31457600-31467200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:31458000-31460600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:31458200-31463800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:31458200-31463800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:31458400-31463800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:31458400-31463800	Weak transcription	Hela-S3	cervix
37	chr14:31458600-31460600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:31458600-31460800	Weak transcription	Psoas Muscle	Psoas
39	chr14:31458600-31463200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:31458600-31463800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:31458600-31463800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:31458600-31463800	Weak transcription	NH-A	brain
43	chr14:31458600-31463800	Weak transcription	NHDF-Ad	bronchial
44	chr14:31458600-31463800	Weak transcription	NHLF	lung
45	chr14:31458600-31463800	Weak transcription	Osteobl	bone
46	chr14:31458600-31464000	Weak transcription	HMEC	breast
47	chr14:31458600-31464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:31458600-31465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:31458600-31465000	Weak transcription	Fetal Stomach	stomach
50	chr14:31458600-31465200	Weak transcription	K562	blood

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