Variant report

Variant	rs6733148
Chromosome Location	chr2:187411103-187411104
allele	C/T
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

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

No.	Distal block	Cell Line	Cell type
1	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
2	chr2:187409753..187412549-chr2:187463065..187465596,2	MCF-7	breast:
3	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
4	chr2:187410468..187412799-chr2:187439579..187442121,2	MCF-7	breast:
5	chr2:187411036..187412543-chr2:187454382..187455902,2	MCF-7	breast:
6	chr2:187392275..187395253-chr2:187409654..187411697,2	MCF-7	breast:
7	chr2:187408692..187413087-chr2:187413826..187419706,7	MCF-7	breast:
8	chr2:187408487..187411855-chr2:187414594..187417273,4	K562	blood:
9	chr2:187390194..187392854-chr2:187410483..187412106,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10168089	0.85[AFR][1000 genomes]
rs10198568	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1451873	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1869029	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2119864	0.85[AFR][1000 genomes]
rs2230616	0.84[AFR][1000 genomes]
rs2595393	0.84[AFR][1000 genomes]
rs3843325	0.85[AFR][1000 genomes]
rs4667105	1.00[YRI][hapmap]
rs6434189	0.92[AFR][1000 genomes]
rs6434191	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7577982	1.00[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv962124	chr2:187409210-187423691	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187405200-187411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:187406600-187412000	Enhancers	HMEC	breast
3	chr2:187408200-187412000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:187408200-187412200	Enhancers	Hela-S3	cervix
5	chr2:187408400-187411400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:187408400-187411400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:187408400-187411600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:187408400-187412000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:187408600-187411400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:187408800-187412200	Enhancers	HSMM	muscle
11	chr2:187409200-187411200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:187409200-187411200	Enhancers	HSMMtube	muscle
13	chr2:187409200-187412000	Enhancers	NH-A	brain
14	chr2:187409400-187412200	Enhancers	NHDF-Ad	bronchial
15	chr2:187409600-187411200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:187409600-187411400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:187409600-187412000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:187409600-187412200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:187409600-187412200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:187409600-187412200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:187409600-187412200	Enhancers	Osteobl	bone
22	chr2:187409800-187411600	Enhancers	HUVEC	blood vessel
23	chr2:187410000-187412200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:187410400-187411400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:187410600-187411400	Weak transcription	Adipose Nuclei	Adipose
26	chr2:187410600-187411600	Enhancers	Placenta	Placenta
27	chr2:187410600-187412000	Enhancers	NHLF	lung
28	chr2:187410600-187412200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:187410600-187412200	Enhancers	Psoas Muscle	Psoas
30	chr2:187410800-187412200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:187410800-187412200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:187411000-187411400	Weak transcription	NHEK	skin
33	chr2:187411000-187411800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:187411000-187412000	Enhancers	A549	lung

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