Variant report

Variant	rs6722740
Chromosome Location	chr2:153193698-153193699
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153193156..153194815-chr2:153197354..153200252,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10803946	0.86[CHB][hapmap]
rs13034665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003332	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2345878	0.83[AMR][1000 genomes]
rs28394649	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs35953368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4035882	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4311022	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4519464	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4664100	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5008216	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55860423	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56111292	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56187233	0.85[AMR][1000 genomes]
rs6725954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759036	0.85[AMR][1000 genomes]
rs7583872	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589218	0.86[CHB][hapmap];0.88[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153191000-153193800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:153191000-153194000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:153191000-153194400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:153191000-153194600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:153191200-153193800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr2:153191200-153193800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:153191200-153193800	Active TSS	Fetal Lung	lung
8	chr2:153191200-153193800	Active TSS	Ovary	ovary
9	chr2:153191200-153193800	Active TSS	HMEC	breast
10	chr2:153191200-153194000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr2:153191200-153194000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:153191200-153194000	Active TSS	Fetal Intestine Small	intestine
13	chr2:153191200-153194200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:153191200-153194200	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:153191200-153194200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:153191200-153194200	Active TSS	Brain Substantia Nigra	brain
17	chr2:153191200-153194200	Active TSS	NHLF	lung
18	chr2:153191200-153194400	Active TSS	Fetal Brain Female	brain
19	chr2:153191200-153194600	Active TSS	Placenta	Placenta
20	chr2:153191200-153194800	Active TSS	Brain Anterior Caudate	brain
21	chr2:153191400-153193800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:153191400-153193800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:153191400-153193800	Active TSS	Fetal Stomach	stomach
24	chr2:153191400-153193800	Active TSS	Gastric	stomach
25	chr2:153191400-153194000	Bivalent/Poised TSS	HepG2	liver
26	chr2:153191400-153194400	Active TSS	Lung	lung
27	chr2:153191400-153194600	Active TSS	Brain Hippocampus Middle	brain
28	chr2:153191400-153194800	Active TSS	Brain Angular Gyrus	brain
29	chr2:153191600-153193800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:153191600-153193800	Active TSS	NHEK	skin
31	chr2:153191600-153194000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:153192400-153193800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153192600-153193800	Active TSS	Liver	Liver
34	chr2:153192800-153193800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:153193000-153193800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr2:153193000-153193800	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr2:153193000-153193800	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr2:153193000-153194000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:153193000-153194000	Bivalent/Poised TSS	Fetal Thymus	thymus
40	chr2:153193000-153194200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr2:153193000-153194200	Flanking Active TSS	HUVEC	blood vessel
42	chr2:153193200-153193800	Active TSS	Colonic Mucosa	Colon
43	chr2:153193200-153193800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr2:153193200-153193800	Active TSS	Right Ventricle	heart
45	chr2:153193200-153193800	Active TSS	Spleen	Spleen
46	chr2:153193200-153194000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr2:153193200-153194000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr2:153193200-153194000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:153193200-153194000	Active TSS	GM12878-XiMat	blood
50	chr2:153193200-153194000	Flanking Active TSS	NH-A	brain

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