Variant report

Variant	rs1269628
Chromosome Location	chr7:107867258-107867259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107866861..107869215-chr7:107871119..107873016,2	K562	blood:
2	chr7:107864802..107867647-chr7:107872960..107875174,3	MCF-7	breast:
3	chr7:107864524..107869511-chr7:107871137..107874228,6	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1155	0.89[CEU][hapmap]
rs11772445	0.87[LWK][hapmap]
rs12537654	0.87[LWK][hapmap]
rs1269621	0.92[CHD][hapmap];0.84[JPT][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs1269622	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1269623	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1269625	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1269629	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269634	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269639	0.85[CEU][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269640	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269641	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269642	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1269643	0.89[ASW][hapmap];0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269645	0.96[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1269649	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1269650	0.87[MEX][hapmap];0.81[MKK][hapmap];0.80[AMR][1000 genomes]
rs1269651	0.83[MEX][hapmap];0.81[MKK][hapmap]
rs1269659	0.89[CEU][hapmap];0.83[MEX][hapmap]
rs2284280	0.87[LWK][hapmap];0.88[MKK][hapmap]
rs36065373	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs370133	0.82[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3819747	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs394145	0.87[LWK][hapmap]
rs405945	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs409724	0.81[MKK][hapmap]
rs409797	0.81[MKK][hapmap]
rs422011	0.96[CEU][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970096	0.84[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs888189	0.83[ASN][1000 genomes]
rs926146	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[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:34 , 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	chr7:107858800-107869600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:107858800-107869800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:107860600-107886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:107862600-107874400	Genic enhancers	A549	lung
10	chr7:107863200-107876000	Weak transcription	Pancreas	Pancrea
11	chr7:107863600-107869800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:107863600-107871000	Weak transcription	HSMMtube	muscle
13	chr7:107863600-107872400	Weak transcription	HSMM	muscle
14	chr7:107863600-107876200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:107863800-107869800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:107863800-107870000	Weak transcription	HUVEC	blood vessel
17	chr7:107863800-107874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:107863800-107876000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:107863800-107876200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:107863800-107877200	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:107864200-107869800	Weak transcription	Brain Anterior Caudate	brain
22	chr7:107864600-107868200	Enhancers	K562	blood
23	chr7:107866000-107867800	Enhancers	Fetal Intestine Large	intestine
24	chr7:107866200-107867400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:107866200-107874200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:107866400-107871000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:107866400-107872200	Weak transcription	Osteobl	bone
28	chr7:107867200-107867400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:107867200-107867400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:107867200-107867400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:107867200-107867600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:107867200-107867600	Enhancers	Fetal Intestine Small	intestine
33	chr7:107867200-107867600	Enhancers	NHDF-Ad	bronchial
34	chr7:107867200-107868200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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