Variant report

Variant	rs229622
Chromosome Location	chr14:65200222-65200223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10138034	0.96[EUR][1000 genomes]
rs11621159	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621379	0.89[EUR][1000 genomes]
rs11622754	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11625500	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628301	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883289	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884903	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12892852	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895353	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553163	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs170683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229645	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs229648	1.00[ASN][1000 genomes]
rs229649	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229653	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229656	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34340219	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140781	0.82[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71420472	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732311	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943995	0.82[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 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	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
2	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:65192400-65210400	Weak transcription	Osteobl	bone
4	chr14:65193200-65200800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
6	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
8	chr14:65193600-65203200	Strong transcription	Fetal Stomach	stomach
9	chr14:65193600-65209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
11	chr14:65193800-65201200	Strong transcription	Fetal Muscle Leg	muscle
12	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr14:65194000-65200600	Strong transcription	A549	lung
15	chr14:65194000-65201200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr14:65194000-65203000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:65194000-65203000	Strong transcription	Placenta	Placenta
18	chr14:65194000-65209000	Weak transcription	Small Intestine	intestine
19	chr14:65194200-65200600	Strong transcription	Colon Smooth Muscle	Colon
20	chr14:65194200-65201000	Strong transcription	Ovary	ovary
21	chr14:65194200-65204800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:65194400-65200400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:65194400-65200400	Strong transcription	Brain Germinal Matrix	brain
25	chr14:65194400-65200400	Strong transcription	Gastric	stomach
26	chr14:65194400-65200800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:65194400-65200800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:65194400-65200800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:65194400-65200800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:65194400-65201000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr14:65194400-65201200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:65194600-65200400	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr14:65194600-65200600	Strong transcription	Fetal Brain Female	brain
34	chr14:65194600-65200600	Strong transcription	Rectal Smooth Muscle	rectum
35	chr14:65194600-65200800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr14:65194600-65200800	Strong transcription	Aorta	Aorta
37	chr14:65194600-65200800	Strong transcription	Liver	Liver
38	chr14:65194600-65200800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:65194600-65202800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:65194600-65203000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:65194800-65200400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:65194800-65200800	Strong transcription	Pancreas	Pancrea
43	chr14:65194800-65201200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:65195000-65200600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:65195000-65201600	Strong transcription	HMEC	breast
46	chr14:65195000-65202400	Strong transcription	NHEK	skin
47	chr14:65195000-65207200	Weak transcription	Primary B cells from cord blood	blood
48	chr14:65195200-65202600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:65195800-65201000	Strong transcription	Brain Anterior Caudate	brain
50	chr14:65195800-65203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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