Variant report

Variant	rs59593474
Chromosome Location	chr12:105623535-105623536
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105501229..105503953-chr12:105621352..105624637,3	MCF-7	breast:
2	chr12:105608225..105613366-chr12:105619333..105624104,5	MCF-7	breast:
3	chr12:105620755..105625323-chr12:105625745..105629848,5	K562	blood:

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10083185	0.92[EUR][1000 genomes]
rs10161513	1.00[ASN][1000 genomes]
rs11112381	0.92[EUR][1000 genomes]
rs11112389	0.91[EUR][1000 genomes]
rs11112410	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112452	1.00[ASN][1000 genomes]
rs11559871	0.86[EUR][1000 genomes]
rs11829598	0.92[EUR][1000 genomes]
rs12299366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299391	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301914	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305766	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307372	0.89[EUR][1000 genomes]
rs12308444	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12311156	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312965	0.92[EUR][1000 genomes]
rs12317637	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317804	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321199	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321518	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321534	0.83[EUR][1000 genomes]
rs12424095	1.00[ASN][1000 genomes]
rs12424191	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424709	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	0.92[EUR][1000 genomes]
rs56284118	0.92[EUR][1000 genomes]
rs56862143	0.92[EUR][1000 genomes]
rs58780154	1.00[ASN][1000 genomes]
rs59320697	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60550375	0.84[AFR][1000 genomes]
rs60835294	0.92[EUR][1000 genomes]
rs60999193	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132816	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133728	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136453	0.92[EUR][1000 genomes]
rs7138574	0.89[EUR][1000 genomes]
rs7300130	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302842	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305406	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	0.92[EUR][1000 genomes]
rs7315964	0.92[EUR][1000 genomes]
rs73179990	0.92[EUR][1000 genomes]
rs73179996	0.92[EUR][1000 genomes]
rs73179998	0.92[EUR][1000 genomes]
rs73180001	0.92[EUR][1000 genomes]
rs73181810	1.00[ASN][1000 genomes]
rs73181818	1.00[ASN][1000 genomes]
rs73181822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181825	1.00[ASN][1000 genomes]
rs73181843	1.00[ASN][1000 genomes]
rs73181852	1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181869	1.00[ASN][1000 genomes]
rs7964184	0.92[EUR][1000 genomes]
rs7971630	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975115	1.00[ASN][1000 genomes]
rs7975787	0.89[EUR][1000 genomes]
rs7978034	0.92[EUR][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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:105609200-105626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:105611200-105628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:105611600-105626200	Weak transcription	Fetal Brain Male	brain
9	chr12:105612000-105624800	Genic enhancers	NHDF-Ad	bronchial
10	chr12:105612800-105624200	Strong transcription	Fetal Stomach	stomach
11	chr12:105613000-105623600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:105616600-105629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:105617000-105629000	Weak transcription	Esophagus	oesophagus
14	chr12:105617400-105625400	Genic enhancers	Muscle Satellite Cultured Cells	--
15	chr12:105617400-105629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:105617600-105625400	Strong transcription	A549	lung
17	chr12:105618200-105625200	Weak transcription	Right Ventricle	heart
18	chr12:105618600-105625200	Weak transcription	Spleen	Spleen
19	chr12:105618600-105626800	Weak transcription	Gastric	stomach
20	chr12:105619400-105625200	Genic enhancers	HSMM	muscle
21	chr12:105619400-105627400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:105620000-105625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:105620400-105624400	Weak transcription	Right Atrium	heart
24	chr12:105620400-105624600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:105620400-105624800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:105620400-105625000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:105620400-105625200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:105620400-105625200	Weak transcription	Pancreas	Pancrea
29	chr12:105620400-105625400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:105620400-105625400	Weak transcription	Fetal Heart	heart
31	chr12:105620400-105626000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:105620400-105626600	Weak transcription	Psoas Muscle	Psoas
33	chr12:105620600-105624200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:105620600-105624600	Genic enhancers	NH-A	brain
35	chr12:105620600-105625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:105620800-105623600	Strong transcription	Dnd41	blood
37	chr12:105621000-105623600	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:105621000-105623600	Strong transcription	Left Ventricle	heart
39	chr12:105621200-105623600	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:105621200-105624600	Enhancers	HUVEC	blood vessel
41	chr12:105621200-105625200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:105621200-105625800	Strong transcription	Primary B cells from cord blood	blood
43	chr12:105621200-105626200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:105621600-105624600	Enhancers	Brain Substantia Nigra	brain
45	chr12:105621600-105625200	Weak transcription	Ovary	ovary
46	chr12:105621600-105627200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:105621800-105625200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:105621800-105625400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:105621800-105626400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:105621800-105626800	Enhancers	Brain Anterior Caudate	brain

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