Variant report

Variant	rs7171948
Chromosome Location	chr15:44226729-44226730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44212995..44215958-chr15:44224697..44226821,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2059625	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2555377	1.00[EUR][1000 genomes]
rs2733225	1.00[EUR][1000 genomes]
rs28537381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2899104	1.00[EUR][1000 genomes]
rs2929276	1.00[EUR][1000 genomes]
rs2930527	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2930532	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2930534	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs475758	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs4924721	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs494774	1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs612258	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs656473	1.00[EUR][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	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44218600-44228400	Enhancers	Brain Substantia Nigra	brain
2	chr15:44220400-44227400	Enhancers	Brain Cingulate Gyrus	brain
3	chr15:44220400-44227600	Enhancers	Brain Hippocampus Middle	brain
4	chr15:44220800-44227400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr15:44221200-44227400	Enhancers	Brain Anterior Caudate	brain
6	chr15:44221400-44227200	Enhancers	Brain Angular Gyrus	brain
7	chr15:44222200-44227000	Enhancers	Osteobl	bone
8	chr15:44224600-44227600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:44224800-44226800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:44224800-44227400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr15:44225000-44227200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:44225000-44227400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:44225000-44227400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:44225000-44228000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:44225000-44228200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:44225200-44227200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:44225200-44232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:44225400-44227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:44225400-44246200	Weak transcription	Right Atrium	heart
20	chr15:44225600-44226800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:44225600-44227000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:44225600-44227000	Weak transcription	Fetal Heart	heart
23	chr15:44225600-44227400	Enhancers	NHDF-Ad	bronchial
24	chr15:44225600-44246200	Weak transcription	NH-A	brain
25	chr15:44226400-44227400	Enhancers	HSMMtube	muscle
26	chr15:44226400-44228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:44226600-44226800	Enhancers	Muscle Satellite Cultured Cells	--

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