Variant report

Variant	rs61705630
Chromosome Location	chr2:192036017-192036018
allele	A/C
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	JUND	chr2:192035379-192036059	SK-N-SH	brain:	n/a	chr2:192035709-192035721 chr2:192035711-192035720 chr2:192035709-192035720
2	SP1	chr2:192035826-192037477	A549	lung:	n/a	chr2:192036124-192036137 chr2:192036893-192036914 chr2:192036531-192036540
3	TCF12	chr2:192033942-192037491	A549	lung:	n/a	n/a
4	NFIC	chr2:192034863-192037453	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr2:192033835-192037464	A549	lung:	n/a	chr2:192034604-192034614 chr2:192036503-192036524 chr2:192034599-192034615 chr2:192035808-192035824 chr2:192036506-192036522 chr2:192036506-192036522 chr2:192033981-192033990 chr2:192036810-192036817
6	EP300	chr2:192035954-192037175	SK-N-SH_RA	brain:	n/a	n/a
7	RXRA	chr2:192035374-192037170	SK-N-SH	brain:	n/a	chr2:192036661-192036675
8	TCF12	chr2:192034801-192037527	SK-N-SH	brain:	n/a	n/a
9	EP300	chr2:192033732-192037469	A549	lung:	n/a	chr2:192034000-192034007 chr2:192035711-192035720 chr2:192034018-192034028
10	PBX3	chr2:192035003-192037323	SK-N-SH	brain:	n/a	n/a
11	MAX	chr2:192035427-192037597	A549	lung:	n/a	chr2:192035711-192035720 chr2:192037386-192037395
12	EP300	chr2:192035989-192037366	A549	lung:	n/a	n/a
13	BCL3	chr2:192035962-192037185	A549	lung:	n/a	n/a
14	POLR2A	chr2:192035746-192036734	MCF10A-Er-Src	breast:	n/a	n/a
15	FOSL2	chr2:192035382-192037364	SK-N-SH	brain:	n/a	chr2:192035709-192035721 chr2:192036588-192036600 chr2:192036822-192036830 chr2:192035711-192035720
16	GATA3	chr2:192034813-192037414	SK-N-SH	brain:	n/a	chr2:192036503-192036524 chr2:192035808-192035824 chr2:192036506-192036522 chr2:192036506-192036522 chr2:192036810-192036817
17	POLR2A	chr2:192033805-192036648	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr2:192033864-192036025	A549	lung:	n/a	chr2:192035709-192035721 chr2:192035711-192035720
19	EP300	chr2:192034957-192036092	SK-N-SH	brain:	n/a	chr2:192035711-192035720
20	POLR2A	chr2:192036003-192037230	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr2:192035979-192037252	A549	lung:	n/a	n/a
22	YY1	chr2:192036002-192036457	SK-N-SH_RA	brain:	n/a	n/a
23	TCF12	chr2:192033792-192038098	SK-N-SH	brain:	n/a	n/a
24	MAX	chr2:192035928-192037403	A549	lung:	n/a	chr2:192037386-192037395
25	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
1	chr2:192034347..192036370-chr2:192114363..192116777,3	MCF-7	breast:
2	chr2:192034668..192038410-chr2:192066286..192069664,4	MCF-7	breast:
3	chr2:192028821..192041382-chr2:192107727..192116436,32	MCF-7	breast:
4	chr2:192034591..192037317-chr2:192037737..192039485,2	MCF-7	breast:
5	chr2:192028853..192037480-chr2:192106689..192114031,33	MCF-7	breast:
6	chr2:192029597..192037041-chr2:192078760..192087012,37	MCF-7	breast:
7	chr2:192034296..192037179-chr2:192221794..192223780,2	MCF-7	breast:

Variant related genes	Relation type
HMGB1P27	TF binding region
ENSG00000227542	Chromatin interaction
ENSG00000128641	Chromatin interaction
ENSG00000230611	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]
rs73980006	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:59 , 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	chr2:192030000-192036600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:192030000-192036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:192030000-192038800	Enhancers	NHLF	lung
9	chr2:192030200-192036600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:192030400-192039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:192030600-192036200	Weak transcription	Small Intestine	intestine
12	chr2:192030600-192037800	Weak transcription	Thymus	Thymus
13	chr2:192031600-192041600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:192031600-192041800	Weak transcription	Aorta	Aorta
15	chr2:192031800-192036200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:192031800-192036400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:192031800-192037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:192032000-192036400	Weak transcription	Fetal Heart	heart
19	chr2:192032200-192037800	Weak transcription	Left Ventricle	heart
20	chr2:192032600-192049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:192032800-192037800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:192033200-192037600	Weak transcription	Pancreas	Pancrea
23	chr2:192033400-192045400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:192033800-192038200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:192034000-192038000	Enhancers	Hela-S3	cervix
26	chr2:192034200-192037000	Enhancers	NH-A	brain
27	chr2:192034200-192039600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:192034600-192039600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:192034800-192037000	Enhancers	HSMM	muscle
30	chr2:192034800-192039600	Enhancers	HSMMtube	muscle
31	chr2:192035000-192037400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:192035200-192036200	Weak transcription	Placenta	Placenta
33	chr2:192035200-192039400	Enhancers	NHEK	skin
34	chr2:192035200-192040600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:192035200-192045200	Weak transcription	Esophagus	oesophagus
36	chr2:192035400-192040200	Enhancers	Fetal Lung	lung
37	chr2:192035600-192037400	Flanking Active TSS	A549	lung
38	chr2:192035600-192038000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:192035600-192038000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:192035800-192036600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:192035800-192037200	Enhancers	HUVEC	blood vessel
42	chr2:192035800-192037600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:192035800-192038000	Enhancers	Adipose Nuclei	Adipose
44	chr2:192035800-192038400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:192036000-192036200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:192036000-192036200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:192036000-192036400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:192036000-192036400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:192036000-192036600	Enhancers	Fetal Thymus	thymus
50	chr2:192036000-192036600	Enhancers	Right Atrium	heart

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