Variant report

Variant	rs7562399
Chromosome Location	chr2:11767282-11767283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11765168..11769666-chr2:11772885..11776464,4	K562	blood:
2	chr2:11765966..11768376-chr2:11772813..11774912,2	MCF-7	breast:
3	chr2:11761418..11764266-chr2:11766835..11768974,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10174816	1.00[CEU][hapmap]
rs10183250	1.00[EUR][1000 genomes]
rs11886664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs13431704	1.00[CEU][hapmap]
rs13432243	1.00[CEU][hapmap]
rs16857649	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16857699	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4387757	1.00[CEU][hapmap]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs55736020	1.00[EUR][1000 genomes]
rs56352405	1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs57779431	1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59101452	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	1.00[EUR][1000 genomes]
rs61382095	1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6432217	1.00[CEU][hapmap]
rs6432218	1.00[CEU][hapmap]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6740248	1.00[CEU][hapmap]
rs6744817	1.00[CEU][hapmap]
rs6745921	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6757729	1.00[CEU][hapmap]
rs73185109	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73915202	1.00[EUR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[EUR][1000 genomes]
rs73917124	1.00[EUR][1000 genomes]
rs73917127	1.00[EUR][1000 genomes]
rs73917203	1.00[EUR][1000 genomes]
rs73917206	1.00[EUR][1000 genomes]
rs73917207	1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7565382	1.00[CEU][hapmap]
rs7585718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7602962	1.00[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11733600-11784000	Strong transcription	HepG2	liver
3	chr2:11748600-11767600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:11752000-11784400	Strong transcription	Ovary	ovary
5	chr2:11755200-11776800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:11759200-11772800	Weak transcription	Right Ventricle	heart
7	chr2:11759400-11780400	Weak transcription	Gastric	stomach
8	chr2:11760200-11771800	Weak transcription	Fetal Intestine Large	intestine
9	chr2:11763400-11769400	Weak transcription	Fetal Heart	heart
10	chr2:11764600-11774400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:11764800-11768400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:11764800-11769000	Strong transcription	Brain Hippocampus Middle	brain
13	chr2:11764800-11776200	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr2:11764800-11776800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:11765000-11767400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:11765000-11767800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:11765000-11768000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:11765000-11776200	Strong transcription	Brain Angular Gyrus	brain
19	chr2:11765000-11776400	Strong transcription	Brain Anterior Caudate	brain
20	chr2:11766600-11767400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:11766600-11767600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:11766600-11773400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr2:11766800-11767600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:11766800-11767600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:11766800-11767600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:11766800-11767600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:11766800-11767800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr2:11766800-11767800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:11766800-11767800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr2:11766800-11767800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr2:11766800-11767800	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr2:11766800-11768000	ZNF genes & repeats	Fetal Stomach	stomach
33	chr2:11766800-11769400	Strong transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:11766800-11771000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:11766800-11776200	Strong transcription	Brain Substantia Nigra	brain
36	chr2:11767000-11767600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:11767000-11767600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr2:11767000-11767600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:11767000-11767600	ZNF genes & repeats	Pancreas	Pancrea
40	chr2:11767000-11767600	ZNF genes & repeats	Right Atrium	heart
41	chr2:11767000-11767800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:11767000-11767800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr2:11767000-11767800	ZNF genes & repeats	Liver	Liver
44	chr2:11767000-11767800	ZNF genes & repeats	Left Ventricle	heart
45	chr2:11767000-11767800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr2:11767000-11768000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr2:11767000-11768000	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr2:11767000-11771000	Weak transcription	Psoas Muscle	Psoas
49	chr2:11767200-11767600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr2:11767200-11767600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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