Variant report

Variant	rs10173697
Chromosome Location	chr2:55066310-55066311
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54990527..54991452-chr2:55065478..55066629,7	MCF-7	breast:
2	chr2:54892587..54893215-chr2:55065584..55066311,2	MCF-7	breast:
3	chr2:55060398..55062114-chr2:55063978..55066536,2	MCF-7	breast:
4	chr2:55065842..55066397-chr2:55402066..55403010,2	MCF-7	breast:
5	chr2:55066064..55068239-chr2:55070022..55072910,2	K562	blood:
6	chr2:55066064..55068907-chr2:55070022..55073567,3	K562	blood:
7	chr2:54749602..54750431-chr2:55065446..55066330,2	K562	blood:
8	chr2:54950232..54951150-chr2:55065622..55066622,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10205156	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10208786	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713277	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12996834	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12999197	0.92[ASN][1000 genomes]
rs1465673	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549840	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2358153	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs930493	0.92[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv874153	chr2:55042463-55073428	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv525624	chr2:55063113-55066310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv874154	chr2:55063113-55084583	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv519306	chr2:55064132-55066310	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55053400-55079000	Weak transcription	HepG2	liver
2	chr2:55054200-55067200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:55062200-55069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:55062400-55066600	Weak transcription	HSMMtube	muscle
5	chr2:55062600-55066600	Weak transcription	Ovary	ovary
6	chr2:55063800-55072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:55064000-55068200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:55064600-55066800	Enhancers	Brain Substantia Nigra	brain
9	chr2:55064800-55066800	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:55065000-55066800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:55065000-55068600	Enhancers	Brain Anterior Caudate	brain
12	chr2:55065200-55066400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:55065200-55066400	Enhancers	Brain Angular Gyrus	brain
14	chr2:55065200-55066800	Enhancers	Brain Hippocampus Middle	brain
15	chr2:55065600-55066400	Enhancers	Fetal Muscle Leg	muscle
16	chr2:55065600-55066400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:55065800-55066800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:55065800-55071200	Weak transcription	Fetal Brain Male	brain
19	chr2:55066000-55067200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:55066200-55066800	Enhancers	Fetal Kidney	kidney
21	chr2:55066200-55067000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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