Variant report

Variant	rs71614685
Chromosome Location	chr4:102069921-102069922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17030795	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2102347	0.99[ASN][1000 genomes]
rs28517387	0.98[ASN][1000 genomes]
rs34505183	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73833224	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102059400-102076600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:102062600-102090400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:102064200-102075200	Weak transcription	Primary B cells from cord blood	blood
4	chr4:102065400-102076200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:102065600-102072200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:102065600-102076200	Weak transcription	HMEC	breast
7	chr4:102065800-102076200	Weak transcription	NHEK	skin
8	chr4:102068600-102070000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:102068800-102077400	Weak transcription	Small Intestine	intestine
10	chr4:102069000-102070000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:102069000-102070800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:102069000-102078600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:102069200-102070600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:102069200-102075000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:102069400-102074800	Weak transcription	Primary T cells from cord blood	blood
16	chr4:102069800-102070000	Enhancers	Brain Anterior Caudate	brain
17	chr4:102069800-102070000	Enhancers	Brain Cingulate Gyrus	brain
18	chr4:102069800-102070000	Enhancers	Brain Substantia Nigra	brain
19	chr4:102069800-102071800	Enhancers	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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