Variant report

Variant	rs1042708
Chromosome Location	chr2:234601859-234601860
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
2	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:
3	chr2:234388753..234400184-chr2:234596527..234603213,35	MCF-7	breast:
4	chr2:234600369..234602177-chr2:234775436..234777156,2	MCF-7	breast:
5	chr2:234393680..234401613-chr2:234597738..234605139,18	MCF-7	breast:
6	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:
7	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
8	chr2:234387197..234390730-chr2:234600088..234603557,3	MCF-7	breast:
9	chr2:234355853..234357392-chr2:234601737..234604100,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000224814	Chromatin interaction
ENSG00000224287	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000085982	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17863762	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs17864722	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs6746642	1.00[LWK][hapmap]
rs7565763	1.00[CHB][hapmap]
rs759173	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234597800-234608600	Weak transcription	Gastric	stomach
2	chr2:234599400-234608000	Weak transcription	HUVEC	blood vessel
3	chr2:234600200-234602600	Enhancers	A549	lung
4	chr2:234600400-234608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:234600600-234602000	Flanking Active TSS	NHEK	skin
6	chr2:234600800-234602400	Enhancers	Fetal Kidney	kidney
7	chr2:234600800-234603000	Weak transcription	Right Atrium	heart
8	chr2:234601000-234602400	Weak transcription	Hela-S3	cervix
9	chr2:234601200-234602000	Weak transcription	Esophagus	oesophagus
10	chr2:234601200-234602200	Enhancers	Pancreas	Pancrea
11	chr2:234601400-234602000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:234601400-234602000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:234601400-234602000	Enhancers	Stomach Mucosa	stomach
14	chr2:234601400-234602200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:234601400-234602200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:234601400-234603000	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:234601600-234602400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:234601600-234602800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:234601600-234603600	Flanking Active TSS	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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