Variant report

Variant	rs13413144
Chromosome Location	chr2:153475253-153475254
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153032229..153034245-chr2:153472883..153475480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048775	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10169433	0.82[EUR][1000 genomes]
rs10193713	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13419134	1.00[YRI][hapmap]
rs13427289	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1437677	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2450	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4664120	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4664599	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4664608	0.81[EUR][1000 genomes]
rs56191709	0.96[EUR][1000 genomes]
rs62179597	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62179623	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62179636	0.82[EUR][1000 genomes]
rs9989874	0.90[AMR][1000 genomes];0.93[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	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
2	chr2:153443000-153476400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:153451200-153476200	Weak transcription	Gastric	stomach
4	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:153463600-153479600	Strong transcription	Placenta	Placenta
7	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:153464000-153479200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:153464600-153480000	Strong transcription	NHEK	skin
11	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:153468000-153480000	Strong transcription	HepG2	liver
13	chr2:153468000-153483200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:153468200-153477800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:153468200-153479400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:153468400-153479200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:153468600-153479200	Strong transcription	HMEC	breast
18	chr2:153468600-153480400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
20	chr2:153468800-153479000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:153468800-153492000	Weak transcription	Liver	Liver
22	chr2:153469000-153475600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
24	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
25	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
26	chr2:153469200-153475400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:153469200-153481200	Weak transcription	Right Atrium	heart
28	chr2:153469200-153484400	Weak transcription	Psoas Muscle	Psoas
29	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:153469600-153475400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:153469600-153479400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:153469600-153487200	Weak transcription	Fetal Thymus	thymus
33	chr2:153469600-153496800	Weak transcription	HSMM	muscle
34	chr2:153469800-153479000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:153470400-153478800	Strong transcription	Left Ventricle	heart
36	chr2:153470400-153483600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:153470600-153480400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:153470600-153483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:153471000-153475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:153471400-153478000	Strong transcription	Adipose Nuclei	Adipose
42	chr2:153471400-153478600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:153471400-153478600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:153471400-153482800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:153471600-153475800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:153471600-153477800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:153471600-153478800	Strong transcription	Lung	lung
48	chr2:153471600-153482200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:153472000-153475600	Enhancers	Fetal Lung	lung
50	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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