Variant report

Variant	rs7536723
Chromosome Location	chr1:171464091-171464092
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10753138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913136	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913165	0.94[ASN][1000 genomes]
rs11589384	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12078309	0.88[ASN][1000 genomes]
rs12079162	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2207192	0.98[ASN][1000 genomes]
rs2207194	0.81[AFR][1000 genomes]
rs2272810	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28831777	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817772	0.84[ASN][1000 genomes]
rs4916387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61814748	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6703132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7536723	ANKRD45	cis	parietal	SCAN
rs7536723	FAM78B	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171455800-171465400	Weak transcription	Lung	lung
2	chr1:171455800-171467800	Weak transcription	Spleen	Spleen
3	chr1:171456000-171481800	Weak transcription	Placenta	Placenta
4	chr1:171456200-171467800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:171456200-171475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:171456400-171466000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:171456400-171467200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:171456400-171467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:171456400-171468400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:171456400-171470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:171456400-171471200	Weak transcription	Thymus	Thymus
12	chr1:171456400-171473000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:171456400-171481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:171456400-171483600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:171456600-171467000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:171456600-171469600	Weak transcription	Fetal Stomach	stomach
17	chr1:171456800-171464200	Weak transcription	Fetal Brain Male	brain
18	chr1:171456800-171474800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:171457000-171465800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:171457200-171469000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:171457600-171471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:171457800-171464600	Enhancers	Primary T cells from cord blood	blood
23	chr1:171457800-171482000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:171457800-171482200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:171458200-171471000	Weak transcription	Fetal Brain Female	brain
26	chr1:171459000-171482000	Weak transcription	HMEC	breast
27	chr1:171460400-171471800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:171460600-171465400	Weak transcription	Pancreas	Pancrea
29	chr1:171460600-171467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:171460800-171464400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:171460800-171464800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:171460800-171466000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:171460800-171467400	Weak transcription	HepG2	liver
34	chr1:171460800-171468000	Weak transcription	Dnd41	blood
35	chr1:171460800-171470200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:171460800-171470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:171460800-171481400	Weak transcription	HSMM	muscle
38	chr1:171461000-171465200	Weak transcription	A549	lung
39	chr1:171461200-171466400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:171461400-171465600	Enhancers	Colon Smooth Muscle	Colon
41	chr1:171461600-171464400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:171461800-171465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:171461800-171465800	Weak transcription	K562	blood
44	chr1:171461800-171466600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:171461800-171466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:171461800-171468200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr1:171461800-171469800	Weak transcription	Primary B cells from cord blood	blood
48	chr1:171461800-171470400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:171462000-171465200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:171462000-171467200	Weak transcription	Fetal Thymus	thymus

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