Variant report

Variant	rs7577962
Chromosome Location	chr2:187408600-187408601
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
2	chr2:187392659..187395517-chr2:187406680..187408986,2	MCF-7	breast:
3	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
4	chr2:187406917..187410917-chr2:187453199..187456715,8	MCF-7	breast:
5	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
6	chr2:187408487..187411855-chr2:187414594..187417273,4	K562	blood:
7	chr2:187408437..187410562-chr2:187417781..187420649,2	K562	blood:
8	chr2:187406244..187408980-chr2:187422400..187424184,2	MCF-7	breast:
9	chr2:187402678..187405489-chr2:187406962..187408853,3	K562	blood:
10	chr2:187407559..187410721-chr2:187423895..187426771,4	MCF-7	breast:
11	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10194631	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10209563	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10209572	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10931247	0.87[ASN][1000 genomes]
rs11685403	0.85[ASN][1000 genomes]
rs11690463	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11695304	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11891731	0.87[ASN][1000 genomes]
rs12693452	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12693453	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13407441	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13428705	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1372649	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1375124	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1376783	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1584695	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17333648	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17333690	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17333717	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17405738	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1839120	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2083678	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2099849	0.82[ASN][1000 genomes]
rs2119861	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2119863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2197787	0.84[CHB][hapmap]
rs34723308	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4144784	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4666706	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666709	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667104	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667106	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6434188	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs66694735	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6717629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6717871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6741214	0.84[ASN][1000 genomes]
rs6753278	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6755033	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68022965	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68161763	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68164840	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs719071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs719072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72903105	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72903112	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7572236	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7588772	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7591411	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs766633	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187405200-187411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:187406000-187410000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:187406400-187408600	Enhancers	HepG2	liver
5	chr2:187406400-187408600	Enhancers	HUVEC	blood vessel
6	chr2:187406600-187408600	Enhancers	NHEK	skin
7	chr2:187406600-187412000	Enhancers	HMEC	breast
8	chr2:187406800-187408600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:187406800-187409200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:187407000-187408600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:187407000-187408800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:187407000-187408800	Weak transcription	Fetal Lung	lung
13	chr2:187407000-187410000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:187407200-187408600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:187407800-187408800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:187407800-187410800	Enhancers	Stomach Mucosa	stomach
17	chr2:187407800-187411000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:187408200-187408600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:187408200-187408600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:187408200-187408600	Enhancers	NHDF-Ad	bronchial
21	chr2:187408200-187408800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:187408200-187408800	Flanking Active TSS	HSMM	muscle
23	chr2:187408200-187408800	Enhancers	Osteobl	bone
24	chr2:187408200-187409000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:187408200-187409000	Enhancers	Adipose Nuclei	Adipose
26	chr2:187408200-187409000	Flanking Active TSS	A549	lung
27	chr2:187408200-187409200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:187408200-187409400	Enhancers	NHLF	lung
29	chr2:187408200-187409600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:187408200-187409600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:187408200-187409600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:187408200-187409600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:187408200-187409600	Enhancers	Colon Smooth Muscle	Colon
34	chr2:187408200-187409800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:187408200-187412000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:187408200-187412200	Enhancers	Hela-S3	cervix
37	chr2:187408400-187408600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:187408400-187409000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:187408400-187409000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:187408400-187409000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:187408400-187409200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:187408400-187409200	Flanking Active TSS	HSMMtube	muscle
43	chr2:187408400-187409200	Flanking Active TSS	NH-A	brain
44	chr2:187408400-187409600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:187408400-187410600	Weak transcription	Placenta	Placenta
46	chr2:187408400-187411400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:187408400-187411400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:187408400-187411600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:187408400-187412000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:187408600-187408800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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