Variant report

Variant	rs12138103
Chromosome Location	chr1:184453441-184453442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184386527..184389872-chr1:184450823..184453922,3	MCF-7	breast:
2	chr1:184450922..184452651-chr1:184453283..184455265,2	K562	blood:
3	chr1:184357130..184358856-chr1:184453432..184454997,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10399817	0.93[CHB][hapmap];0.93[ASN][1000 genomes]
rs10911610	0.93[CHB][hapmap]
rs12117823	1.00[CEU][hapmap];0.93[CHB][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12120604	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs12121612	0.93[CHB][hapmap];0.93[ASN][1000 genomes]
rs12127697	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12129904	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12141469	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12143271	0.86[EUR][1000 genomes]
rs1535132	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823195	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs16823197	1.00[CEU][hapmap];0.93[CHB][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16823238	0.93[CHB][hapmap];0.94[ASN][1000 genomes]
rs16823313	0.82[CHB][hapmap]
rs2180072	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2207526	0.93[CHB][hapmap];0.93[ASN][1000 genomes]
rs2207527	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58231072	0.89[ASN][1000 genomes]
rs61825202	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61825204	0.86[EUR][1000 genomes]
rs61825205	0.86[EUR][1000 genomes]
rs6659261	0.93[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs6683932	0.93[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs6693408	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs7513091	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7525267	0.91[ASN][1000 genomes]
rs7548188	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184429000-184454800	Weak transcription	Aorta	Aorta
2	chr1:184439200-184453600	Weak transcription	Fetal Brain Female	brain
3	chr1:184444600-184460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:184447000-184454600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:184447400-184453600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:184447400-184457600	Enhancers	Fetal Intestine Small	intestine
7	chr1:184447800-184457000	Enhancers	Fetal Intestine Large	intestine
8	chr1:184448800-184456400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:184449000-184456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:184449200-184460600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:184449400-184455200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:184449600-184456600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:184449800-184454000	Enhancers	Left Ventricle	heart
14	chr1:184449800-184455200	Enhancers	Fetal Heart	heart
15	chr1:184449800-184457000	Enhancers	Colon Smooth Muscle	Colon
16	chr1:184449800-184457200	Enhancers	Adipose Nuclei	Adipose
17	chr1:184449800-184457200	Enhancers	Fetal Muscle Leg	muscle
18	chr1:184449800-184457400	Enhancers	Ovary	ovary
19	chr1:184449800-184457600	Enhancers	Right Atrium	heart
20	chr1:184449800-184459800	Enhancers	Psoas Muscle	Psoas
21	chr1:184450000-184455000	Weak transcription	Spleen	Spleen
22	chr1:184450000-184456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:184450000-184456000	Enhancers	Fetal Stomach	stomach
24	chr1:184450200-184453600	Weak transcription	Gastric	stomach
25	chr1:184450200-184463200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:184450400-184457600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:184450800-184454000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:184450800-184454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:184450800-184455800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:184450800-184456000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:184450800-184456000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:184450800-184456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:184450800-184457000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:184451000-184456200	Enhancers	Pancreas	Pancrea
35	chr1:184451200-184454000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:184451200-184454800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:184451200-184455400	Enhancers	HSMM	muscle
38	chr1:184451400-184453600	Weak transcription	NHEK	skin
39	chr1:184451400-184454800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:184451400-184455800	Enhancers	HSMMtube	muscle
41	chr1:184451400-184457000	Enhancers	Stomach Mucosa	stomach
42	chr1:184451400-184463600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:184451600-184455000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:184451600-184455000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:184451600-184455600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:184451600-184456400	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:184451600-184459200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:184451800-184456000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:184451800-184456600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:184451800-184457200	Enhancers	Duodenum Smooth Muscle	Duodenum

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