Variant report

Variant	rs70600
Chromosome Location	chr17:44860021-44860022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:44859861..44862061-chr17:44870856..44873338,2	K562	blood:
2	chr17:44847668..44852830-chr17:44858394..44861796,5	MCF-7	breast:
3	chr17:44850229..44852785-chr17:44858789..44861239,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 68 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1378358	1.00[ASN][1000 genomes]
rs169201	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199439	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199443	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199445	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199447	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199448	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199451	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199456	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199457	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199499	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs199502	0.85[EUR][1000 genomes]
rs199503	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199504	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199505	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199506	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199507	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199509	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199510	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199512	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199513	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199514	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199515	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199516	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs199525	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199526	0.86[EUR][1000 genomes]
rs199528	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199529	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199533	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199534	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199535	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415430	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430685	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538628	1.00[ASN][1000 genomes]
rs70602	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs916888	1.00[ASN][1000 genomes]
rs9896243	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431716	chr17:43893020-44868187	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	62 gene(s)	inside rSNPs	diseases
2	nsv431718	chr17:44094463-44873614	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv431729	chr17:44144214-44869063	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv2757660	chr17:44162284-44868187	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv431805	chr17:44165803-44868430	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS 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	73 gene(s)	inside rSNPs	diseases
7	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv916432	chr17:44223908-44873614	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	esv1819056	chr17:44391822-44873614	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
12	esv1844763	chr17:44391822-44913631	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv428343	chr17:44391822-44913631	Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1806073	chr17:44443111-44873614	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription 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	30 gene(s)	inside rSNPs	diseases
16	esv1850605	chr17:44537030-44913631	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
17	esv1803756	chr17:44680207-44865439	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv833465	chr17:44706496-44889749	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
19	esv1843460	chr17:44732200-44913631	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
21	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
22	esv1807468	chr17:44848517-44865439	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:68)

SNP	Gene	Cis/trans	Tissue	Source
rs70600	RP11-259G18.3	cis	Skin Sun Exposed Lower leg	GTEx
rs70600	RP11-259G18.3	cis	Muscle Skeletal	GTEx
rs70600	LRRC37A2	cis	Nerve Tibial	GTEx
rs70600	RP11-259G18.2	cis	Stomach	GTEx
rs70600	RP11-259G18.3	cis	Thyroid	GTEx
rs70600	KANSL1-AS1	cis	Muscle Skeletal	GTEx
rs70600	LRRC37A	cis	lung	GTEx
rs70600	KANSL1-AS1	cis	Artery Aorta	GTEx
rs70600	KANSL1-AS1	cis	Thyroid	GTEx
rs70600	KANSL1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs70600	RP11-259G18.2	cis	Artery Aorta	GTEx
rs70600	RP11-259G18.2	cis	Nerve Tibial	GTEx
rs70600	RP11-259G18.3	cis	Artery Tibial	GTEx
rs70600	RP11-259G18.3	cis	Stomach	GTEx
rs70600	KANSL1-AS1	cis	Adipose Subcutaneous	GTEx
rs70600	LRRC37A	cis	Esophagus Mucosa	GTEx
rs70600	RP11-259G18.2	cis	Muscle Skeletal	GTEx
rs70600	RP11-259G18.3	cis	Heart Left Ventricle	GTEx
rs70600	LRRC37A	cis	Thyroid	GTEx
rs70600	RP11-259G18.3	cis	Adipose Subcutaneous	GTEx
rs70600	RP11-259G18.2	cis	Esophagus Muscularis	GTEx
rs70600	LRRC37A2	cis	Artery Aorta	GTEx
rs70600	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs70600	KANSL1-AS1	cis	Esophagus Muscularis	GTEx
rs70600	LRRC37A	cis	Artery Tibial	GTEx
rs70600	LRRC37A17P	cis	Esophagus Mucosa	GTEx
rs70600	LRRC37A	cis	Stomach	GTEx
rs70600	LRRC37A	cis	Nerve Tibial	GTEx
rs70600	KANSL1-AS1	cis	Esophagus Mucosa	GTEx
rs70600	RP11-259G18.2	cis	Esophagus Mucosa	GTEx
rs70600	KANSL1-AS1	cis	Whole Blood	GTEx
rs70600	LRRC37A2	cis	Esophagus Muscularis	GTEx
rs70600	RP11-259G18.2	cis	Whole Blood	GTEx
rs70600	LRRC37A	cis	Esophagus Muscularis	GTEx
rs70600	LRRC37A4	Cis_chr	lymphoblastoid	RTeQTL
rs70600	RP11-259G18.3	cis	Nerve Tibial	GTEx
rs70600	KANSL1-AS1	cis	Artery Tibial	GTEx
rs70600	RP11-259G18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs70600	RP11-259G18.2	cis	Adipose Subcutaneous	GTEx
rs70600	LRRC37A2	cis	Stomach	GTEx
rs70600	KANSL1-AS1	cis	Stomach	GTEx
rs70600	RP11-259G18.3	cis	Artery Aorta	GTEx
rs70600	LRRC37A2	cis	Adipose Subcutaneous	GTEx
rs70600	RP11-259G18.3	cis	Whole Blood	GTEx
rs70600	MAPT	cis	Esophagus Mucosa	GTEx
rs70600	RP11-259G18.3	cis	lung	GTEx
rs70600	LRRC37A	cis	Adipose Subcutaneous	GTEx
rs70600	MAPK8IP1	trans	lymphoblastoid	RTeQTL
rs70600	LRRC37A2	cis	Skin Sun Exposed Lower leg	GTEx
rs70600	KANSL1-AS1	cis	Nerve Tibial	GTEx
rs70600	KANSL1-AS1	cis	Heart Left Ventricle	GTEx
rs70600	RP11-259G18.3	cis	Esophagus Muscularis	GTEx
rs70600	LRRC37A2	cis	Whole Blood	GTEx
rs70600	RP11-259G18.2	cis	Artery Tibial	GTEx
rs70600	LRRC37A2	cis	lung	GTEx
rs70600	LRRC37A	cis	Skin Sun Exposed Lower leg	GTEx
rs70600	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs70600	RP11-259G18.3	cis	Esophagus Mucosa	GTEx
rs70600	LRRC37A2	cis	Artery Tibial	GTEx
rs70600	LRRC37A	cis	Muscle Skeletal	GTEx
rs70600	RP11-259G18.2	cis	Heart Left Ventricle	GTEx
rs70600	RP11-259G18.2	cis	lung	GTEx
rs70600	KANSL1-AS1	cis	lung	GTEx
rs70600	LRRC37A	cis	Artery Aorta	GTEx
rs70600	WNT3	cis	Thyroid	GTEx
rs70600	LRRC37A2	cis	Thyroid	GTEx
rs70600	RP11-259G18.2	cis	Thyroid	GTEx
rs70600	LRRC37A2	cis	Muscle Skeletal	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44850000-44862800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:44855800-44862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:44856800-44861000	Weak transcription	Placenta	Placenta
4	chr17:44857000-44860200	Weak transcription	HSMMtube	muscle
5	chr17:44857000-44861000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:44857000-44866000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:44857200-44862600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:44857600-44861200	Enhancers	K562	blood
9	chr17:44857800-44862600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:44858800-44861200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:44859200-44860200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:44859400-44860200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr17:44859400-44860200	Enhancers	Hela-S3	cervix
14	chr17:44859400-44860400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:44859400-44861400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:44859400-44862000	Enhancers	Pancreas	Pancrea
17	chr17:44859600-44861000	Enhancers	Liver	Liver
18	chr17:44859600-44861000	Enhancers	NHEK	skin
19	chr17:44859800-44860200	Enhancers	Spleen	Spleen
20	chr17:44859800-44860400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:44859800-44860600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr17:44859800-44860800	Enhancers	Fetal Intestine Large	intestine
23	chr17:44859800-44861000	Enhancers	Stomach Mucosa	stomach
24	chr17:44859800-44861200	Enhancers	Esophagus	oesophagus
25	chr17:44859800-44861400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr17:44860000-44860200	Enhancers	Gastric	stomach
27	chr17:44860000-44860600	Genic enhancers	Fetal Intestine Small	intestine
28	chr17:44860000-44861000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr17:44860000-44861200	Flanking Active TSS	HepG2	liver
30	chr17:44860000-44861400	Enhancers	Duodenum Mucosa	Duodenum

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