Variant report

Variant	rs6723321
Chromosome Location	chr2:134315938-134315939
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11675814	0.90[AFR][1000 genomes]
rs11688182	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs11695364	0.81[ASW][hapmap]
rs1368096	0.93[AFR][1000 genomes]
rs17816830	1.00[AFR][1000 genomes]
rs1864816	0.84[YRI][hapmap];0.96[AFR][1000 genomes]
rs34522146	0.93[AFR][1000 genomes]
rs34570953	0.93[AFR][1000 genomes]
rs6710186	0.84[YRI][hapmap];0.95[AFR][1000 genomes]
rs6715224	0.89[ASW][hapmap];0.91[LWK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134290800-134324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:134310400-134324000	Weak transcription	NHEK	skin
3	chr2:134311200-134323000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:134312000-134318400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:134312000-134323600	Weak transcription	NH-A	brain
6	chr2:134312600-134321800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134314200-134318400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:134314400-134316600	Enhancers	Brain Hippocampus Middle	brain
9	chr2:134314400-134318000	Weak transcription	Hela-S3	cervix
10	chr2:134314600-134316000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:134314600-134316600	Enhancers	Fetal Brain Female	brain
12	chr2:134315000-134316200	Enhancers	Brain Germinal Matrix	brain
13	chr2:134315200-134316000	Enhancers	Brain Anterior Caudate	brain
14	chr2:134315200-134316000	Genic enhancers	Brain Substantia Nigra	brain
15	chr2:134315200-134316000	Enhancers	Fetal Heart	heart
16	chr2:134315200-134316200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:134315200-134316200	Enhancers	Brain Angular Gyrus	brain
18	chr2:134315400-134316000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:134315400-134316600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:134315600-134318200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:134315600-134323600	Weak transcription	NHLF	lung
22	chr2:134315600-134324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:134315800-134316400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:134315800-134322400	Weak transcription	NHDF-Ad	bronchial
25	chr2:134315800-134324000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:134315800-134324400	Weak transcription	Fetal Brain Male	brain

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