Variant report

Variant	rs73980006
Chromosome Location	chr2:192037807-192037808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:192037687-192037874	MCF10A-Er-Src	breast:	n/a	chr2:192037728-192037736
2	TCF12	chr2:192033792-192038098	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr2:192034742-192038048	SK-N-SH	brain:	n/a	chr2:192036503-192036524 chr2:192035808-192035824 chr2:192036506-192036522 chr2:192036506-192036522 chr2:192036810-192036817

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:192034668..192038410-chr2:192066286..192069664,4	MCF-7	breast:
2	chr2:192028821..192041382-chr2:192107727..192116436,32	MCF-7	breast:

Variant related genes	Relation type
HMGB1P27	TF binding region
ENSG00000227542	Chromatin interaction
ENSG00000128641	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3024845	1.00[AMR][1000 genomes]
rs56326388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61705630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980039	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	nsv1004656	chr2:191980778-192221650	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536090	chr2:191980778-192221650	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv875623	chr2:192002538-192061869	Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:192029800-192038000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:192029800-192039600	Enhancers	HMEC	breast
3	chr2:192029800-192039600	Enhancers	NHDF-Ad	bronchial
4	chr2:192029800-192039600	Enhancers	Osteobl	bone
5	chr2:192029800-192041400	Enhancers	Liver	Liver
6	chr2:192030000-192038800	Enhancers	NHLF	lung
7	chr2:192030400-192039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:192031600-192041600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:192031600-192041800	Weak transcription	Aorta	Aorta
10	chr2:192032600-192049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:192033400-192045400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:192033800-192038200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:192034000-192038000	Enhancers	Hela-S3	cervix
14	chr2:192034200-192039600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:192034600-192039600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:192034800-192039600	Enhancers	HSMMtube	muscle
17	chr2:192035200-192039400	Enhancers	NHEK	skin
18	chr2:192035200-192040600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:192035200-192045200	Weak transcription	Esophagus	oesophagus
20	chr2:192035400-192040200	Enhancers	Fetal Lung	lung
21	chr2:192035600-192038000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:192035600-192038000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:192035800-192038000	Enhancers	Adipose Nuclei	Adipose
24	chr2:192035800-192038400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:192036000-192038000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:192036000-192038200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:192036000-192038200	Enhancers	Fetal Muscle Leg	muscle
28	chr2:192036200-192038000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:192036200-192039200	Enhancers	Placenta	Placenta
30	chr2:192036400-192038000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:192036400-192039600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:192036600-192038800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:192036600-192039400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:192036800-192039200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:192037000-192038400	Enhancers	Fetal Thymus	thymus
36	chr2:192037000-192039600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:192037000-192039800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:192037000-192040600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:192037200-192040600	Weak transcription	Fetal Intestine Large	intestine
40	chr2:192037400-192038000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:192037400-192038000	Enhancers	NH-A	brain
42	chr2:192037400-192038400	Enhancers	Fetal Muscle Trunk	muscle
43	chr2:192037400-192038400	Enhancers	HSMM	muscle
44	chr2:192037400-192038800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:192037400-192067200	Weak transcription	Fetal Stomach	stomach
46	chr2:192037600-192038000	Enhancers	Pancreas	Pancrea
47	chr2:192037600-192038200	Weak transcription	Right Atrium	heart
48	chr2:192037600-192038800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:192037600-192038800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:192037600-192038800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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