Variant report

Variant	rs10497972
Chromosome Location	chr2:213225296-213225297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213213790..213216008-chr2:213223245..213225984,2	MCF-7	breast:
2	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10174236	1.00[ASN][1000 genomes]
rs11892564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13383860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13383978	0.97[ASN][1000 genomes]
rs13384603	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13395813	1.00[ASN][1000 genomes]
rs1394799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848525	1.00[CHB][hapmap]
rs28623294	0.97[ASN][1000 genomes]
rs62184101	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6435700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs7575393	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006051	chr2:213052804-213273642	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv584346	chr2:213067749-213258622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv834526	chr2:213114901-213237146	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1014680	chr2:213142147-213301614	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv3149	chr2:213204282-213248966	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv584422	chr2:213214303-213270427	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1003694	chr2:213216431-213290523	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213219200-213227200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:213219200-213233600	Weak transcription	Psoas Muscle	Psoas
3	chr2:213221000-213228600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:213224000-213225400	Enhancers	Fetal Intestine Large	intestine
5	chr2:213224000-213227200	Enhancers	Fetal Heart	heart
6	chr2:213224200-213225400	Enhancers	Brain Angular Gyrus	brain
7	chr2:213224200-213225400	Enhancers	Brain Hippocampus Middle	brain
8	chr2:213224200-213225400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:213224200-213226400	Enhancers	Brain Substantia Nigra	brain
10	chr2:213224200-213227400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:213224600-213226400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:213224600-213228800	Weak transcription	Brain Germinal Matrix	brain
13	chr2:213224800-213225400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:213224800-213225400	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr2:213225000-213225400	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:213225000-213228600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:213225200-213225400	Active TSS	Aorta	Aorta
18	chr2:213225200-213226600	Enhancers	HepG2	liver
19	chr2:213225200-213228400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:213225200-213228600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:213225200-213228600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:213225200-213228800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:213225200-213229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:213225200-213229200	Weak transcription	Fetal Kidney	kidney
25	chr2:213225200-213231600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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