Variant report

Variant	rs1269627
Chromosome Location	chr7:107864951-107864952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107862718..107866032-chr7:108095765..108097371,3	MCF-7	breast:
2	chr7:107864840..107866705-chr7:107870457..107872843,3	K562	blood:
3	chr7:107864802..107867647-chr7:107872960..107875174,3	MCF-7	breast:
4	chr7:107864524..107869511-chr7:107871137..107874228,6	K562	blood:
5	chr7:107862352..107865587-chr7:107986497..107989466,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

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

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

rs_ID	r²[population]
rs369800	0.94[CEU][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs369884	0.93[CEU][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs379986	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs381318	0.89[ASN][1000 genomes]
rs382932	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383341	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs392704	0.89[ASN][1000 genomes]
rs392976	0.96[EUR][1000 genomes]
rs393245	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs397179	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs397704	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs402029	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs404287	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs404453	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs425013	0.90[ASN][1000 genomes]
rs449540	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs449711	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6958498	0.94[CEU][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6964394	0.82[ASN][1000 genomes]
rs6978315	0.96[EUR][1000 genomes];0.84[ASN][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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107820600-107867400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:107852200-107875600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:107852400-107875600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:107852400-107876000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:107858800-107867200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:107858800-107869600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:107858800-107869800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:107860600-107886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:107862600-107874400	Genic enhancers	A549	lung
11	chr7:107863200-107876000	Weak transcription	Pancreas	Pancrea
12	chr7:107863400-107865400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:107863600-107865600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:107863600-107867200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:107863600-107869800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:107863600-107871000	Weak transcription	HSMMtube	muscle
17	chr7:107863600-107872400	Weak transcription	HSMM	muscle
18	chr7:107863600-107876200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:107863800-107865600	Weak transcription	NHDF-Ad	bronchial
20	chr7:107863800-107865600	Weak transcription	Osteobl	bone
21	chr7:107863800-107866000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:107863800-107869800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:107863800-107870000	Weak transcription	HUVEC	blood vessel
24	chr7:107863800-107874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:107863800-107876000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:107863800-107876200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:107863800-107877200	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:107864200-107869800	Weak transcription	Brain Anterior Caudate	brain
29	chr7:107864600-107868200	Enhancers	K562	blood

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