Variant report

Variant	rs11927604
Chromosome Location	chr3:150109435-150109436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150108770..150111443-chr3:150121754..150123865,2	K562	blood:
2	chr3:150109097..150111553-chr3:150125246..150129049,3	K562	blood:
3	chr3:150108811..150111187-chr3:150116548..150119343,3	MCF-7	breast:
4	chr3:150094478..150097287-chr3:150107822..150109795,2	MCF-7	breast:
5	chr3:150109427..150111930-chr3:150114041..150117161,4	K562	blood:
6	chr3:150101451..150104370-chr3:150105337..150109927,7	K562	blood:
7	chr3:150106073..150107680-chr3:150109280..150112020,2	MCF-7	breast:
8	chr3:150107184..150109571-chr3:150125660..150127551,2	MCF-7	breast:
9	chr3:150032815..150035276-chr3:150108966..150110924,2	MCF-7	breast:
10	chr3:150108916..150110549-chr3:150112445..150115042,2	MCF-7	breast:
11	chr3:150103049..150105345-chr3:150109294..150110988,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11914555	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16862616	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2868429	0.90[YRI][hapmap]
rs2868943	0.81[YRI][hapmap]
rs36122343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6778948	0.82[YRI][hapmap]
rs7642773	0.84[YRI][hapmap]
rs9844184	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150090800-150111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:150090800-150111000	Weak transcription	NHEK	skin
4	chr3:150097800-150111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:150102800-150111400	Weak transcription	Fetal Intestine Large	intestine
6	chr3:150102800-150118200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:150103600-150112200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:150103800-150109600	Weak transcription	K562	blood
9	chr3:150105800-150109800	Enhancers	HUVEC	blood vessel
10	chr3:150106000-150109600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:150106400-150109600	Enhancers	NHDF-Ad	bronchial
12	chr3:150106800-150111200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:150107200-150112400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:150107600-150111000	Weak transcription	Pancreas	Pancrea
15	chr3:150107600-150114400	Weak transcription	Fetal Heart	heart
16	chr3:150108400-150109600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:150108400-150109600	Enhancers	A549	lung
18	chr3:150108400-150111600	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:150108600-150109600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:150108800-150109600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:150108800-150109600	Enhancers	Hela-S3	cervix
22	chr3:150109000-150109600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:150109200-150110600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:150109200-150112400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:150109200-150124400	Weak transcription	HSMM	muscle
26	chr3:150109200-150124600	Weak transcription	NHLF	lung
27	chr3:150109400-150114400	Weak transcription	HSMMtube	muscle
28	chr3:150109400-150114600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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