Variant report

Variant	rs9662911
Chromosome Location	chr1:78356684-78356685
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	chr1:78351152..78352744-chr1:78356404..78358036,2	K562	blood:
2	chr1:78354412..78357543-chr1:78468778..78471529,4	K562	blood:

Variant related genes	Relation type
ENSG00000273338	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1780051	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1984298	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2051160	1.00[AMR][1000 genomes]
rs4245659	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs584562	1.00[AMR][1000 genomes]
rs628002	1.00[AMR][1000 genomes]
rs6704477	1.00[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693127	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78352400-78359800	Active TSS	Right Ventricle	heart
2	chr1:78353200-78357200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:78353200-78359200	Active TSS	Right Atrium	heart
4	chr1:78353400-78357000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:78353400-78357000	Active TSS	NHLF	lung
6	chr1:78353600-78357000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:78353800-78358400	Active TSS	Aorta	Aorta
8	chr1:78354000-78357200	Active TSS	HSMMtube	muscle
9	chr1:78354000-78358000	Active TSS	Stomach Smooth Muscle	stomach
10	chr1:78354200-78356800	Active TSS	Fetal Muscle Leg	muscle
11	chr1:78354200-78357000	Active TSS	Fetal Heart	heart
12	chr1:78354200-78357000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr1:78354200-78357600	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:78355000-78357400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:78355200-78357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:78355200-78360200	Weak transcription	Lung	lung
17	chr1:78355200-78361600	Weak transcription	Pancreas	Pancrea
18	chr1:78355600-78357000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:78355600-78357000	Weak transcription	Left Ventricle	heart
20	chr1:78355600-78366600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:78355800-78356800	Flanking Active TSS	Osteobl	bone
22	chr1:78355800-78357000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:78355800-78357200	Weak transcription	Psoas Muscle	Psoas
24	chr1:78355800-78358800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:78355800-78359200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:78355800-78359400	Weak transcription	Brain Germinal Matrix	brain
27	chr1:78355800-78383800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:78355800-78386200	Weak transcription	Fetal Intestine Small	intestine
29	chr1:78356000-78357200	Enhancers	A549	lung
30	chr1:78356000-78359800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:78356000-78364200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:78356000-78365000	Weak transcription	Fetal Intestine Large	intestine
33	chr1:78356200-78359000	Weak transcription	Fetal Lung	lung
34	chr1:78356200-78366200	Weak transcription	NHDF-Ad	bronchial
35	chr1:78356200-78408600	Weak transcription	HMEC	breast
36	chr1:78356400-78356800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:78356400-78357000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:78356400-78357200	Flanking Active TSS	NH-A	brain
39	chr1:78356400-78357800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:78356400-78358800	Weak transcription	Fetal Stomach	stomach
41	chr1:78356400-78365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:78356400-78396000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:78356600-78356800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:78356600-78356800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:78356600-78356800	Enhancers	HUVEC	blood vessel
46	chr1:78356600-78357200	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:78356600-78357200	Genic enhancers	HSMM	muscle
48	chr1:78356600-78365400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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