Variant report

Variant	rs17127916
Chromosome Location	chr1:86036392-86036393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86036311..86039130-chr1:86039970..86042823,4	MCF-7	breast:
2	chr1:86034192..86035799-chr1:86036306..86038503,2	K562	blood:
3	chr1:86031426..86034385-chr1:86034909..86037584,2	K562	blood:
4	chr1:86029966..86032926-chr1:86033202..86036409,3	K562	blood:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17127887	0.92[ASN][1000 genomes]
rs17127897	0.92[ASN][1000 genomes]
rs17127904	1.00[ASN][1000 genomes]
rs17127933	1.00[ASN][1000 genomes]
rs17127949	0.91[ASN][1000 genomes]
rs17128078	1.00[CHB][hapmap]
rs7512713	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7519002	1.00[ASN][1000 genomes]
rs9324150	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9658588	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9658592	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:86032800-86042000	Weak transcription	Left Ventricle	heart
2	chr1:86033200-86038200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:86033400-86037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:86033800-86037800	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:86034000-86037000	Enhancers	NHLF	lung
6	chr1:86034000-86037200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:86034000-86037400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:86034000-86037600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:86034000-86037600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:86034000-86038000	Enhancers	Aorta	Aorta
11	chr1:86034000-86038000	Enhancers	NHEK	skin
12	chr1:86034000-86041800	Enhancers	HMEC	breast
13	chr1:86034200-86038000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:86034400-86036400	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:86034400-86036600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:86034400-86037800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:86034600-86036600	Enhancers	Fetal Heart	heart
18	chr1:86034600-86041400	Weak transcription	Lung	lung
19	chr1:86034800-86041200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:86035000-86037600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:86035200-86036800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:86035200-86037000	Enhancers	HSMM	muscle
23	chr1:86035200-86037000	Enhancers	HSMMtube	muscle
24	chr1:86035200-86038000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:86035200-86038400	Weak transcription	Esophagus	oesophagus
26	chr1:86035200-86041400	Enhancers	HUVEC	blood vessel
27	chr1:86035400-86036600	Enhancers	NHDF-Ad	bronchial
28	chr1:86035400-86038000	Enhancers	HepG2	liver
29	chr1:86035400-86041000	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr1:86035400-86041400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:86035400-86041800	Weak transcription	Right Ventricle	heart
32	chr1:86035600-86037200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:86035600-86037400	Enhancers	Fetal Kidney	kidney
34	chr1:86035600-86041800	Weak transcription	Ovary	ovary
35	chr1:86035600-86042000	Weak transcription	Placenta	Placenta
36	chr1:86035800-86036400	Enhancers	NH-A	brain
37	chr1:86035800-86036800	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:86035800-86036800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:86035800-86037000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:86035800-86037600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:86036000-86036800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:86036000-86037000	Weak transcription	Fetal Stomach	stomach
43	chr1:86036200-86036400	Enhancers	A549	lung
44	chr1:86036200-86037200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:86036200-86037800	Transcr. at gene 5' and 3'	Osteobl	bone
46	chr1:86036200-86040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:86036200-86041800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:86036200-86042200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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