Variant report

Variant	rs73008193
Chromosome Location	chr2:153443244-153443245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153439236..153441147-chr2:153442384..153444667,2	MCF-7	breast:
2	chr2:153437360..153438992-chr2:153441659..153443672,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10497110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823801	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3811573	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73008185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008196	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73008200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:153403200-153448000	Weak transcription	Lung	lung
3	chr2:153416400-153454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:153416400-153465200	Weak transcription	Left Ventricle	heart
5	chr2:153418800-153444600	Weak transcription	Fetal Brain Male	brain
6	chr2:153420400-153443400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:153423800-153471200	Weak transcription	Fetal Kidney	kidney
8	chr2:153428000-153468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:153428200-153456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:153429200-153456200	Weak transcription	Spleen	Spleen
11	chr2:153430000-153449400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:153434200-153473600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:153434400-153454400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:153435400-153473200	Weak transcription	Right Ventricle	heart
15	chr2:153435600-153455200	Weak transcription	Hela-S3	cervix
16	chr2:153436600-153444800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:153438200-153456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:153438400-153444200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
20	chr2:153438600-153443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:153438600-153444800	Weak transcription	Fetal Brain Female	brain
22	chr2:153438600-153456400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:153438600-153464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:153438800-153448000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:153438800-153454400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:153438800-153463800	Weak transcription	Fetal Lung	lung
27	chr2:153439000-153443600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:153439000-153445800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:153439000-153445800	Weak transcription	Placenta	Placenta
30	chr2:153439800-153456200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:153440000-153444800	Enhancers	Osteobl	bone
32	chr2:153440200-153444600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:153440200-153444600	Enhancers	NH-A	brain
34	chr2:153440200-153445000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:153440400-153445000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:153440600-153443600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:153440600-153453000	Weak transcription	Fetal Heart	heart
38	chr2:153440800-153443400	Weak transcription	NHEK	skin
39	chr2:153440800-153445000	Enhancers	NHLF	lung
40	chr2:153441000-153445000	Enhancers	NHDF-Ad	bronchial
41	chr2:153441000-153468000	Weak transcription	Fetal Intestine Large	intestine
42	chr2:153441200-153444400	Weak transcription	Stomach Mucosa	stomach
43	chr2:153441200-153445200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:153441600-153444200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:153441800-153443400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:153441800-153444600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:153441800-153446200	Enhancers	Brain Hippocampus Middle	brain
48	chr2:153442000-153443400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:153442000-153443600	Enhancers	Brain Angular Gyrus	brain
50	chr2:153442000-153443600	Genic enhancers	Fetal Stomach	stomach

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