Variant report

Variant	rs236265
Chromosome Location	chr1:94108253-94108254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94106443..94109001-chr1:94145542..94148365,4	MCF-7	breast:
2	chr1:94096748..94098935-chr1:94106081..94108705,3	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs171030	1.00[AFR][1000 genomes]
rs1772780	1.00[AFR][1000 genomes]
rs180499	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs236264	0.89[AFR][1000 genomes]
rs236282	0.94[AFR][1000 genomes]
rs236286	1.00[AFR][1000 genomes]
rs236289	0.94[AFR][1000 genomes]
rs236290	0.94[AFR][1000 genomes]
rs236294	1.00[YRI][hapmap]
rs236297	1.00[AFR][1000 genomes]
rs236298	1.00[AFR][1000 genomes]
rs236299	1.00[AFR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94088600-94118800	Weak transcription	Gastric	stomach
2	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
3	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
4	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:94097200-94108400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:94097400-94108600	Strong transcription	NHEK	skin
7	chr1:94097800-94111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
9	chr1:94100400-94108600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:94100400-94112000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:94101600-94109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
13	chr1:94101800-94110400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:94102000-94108600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:94102000-94108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:94102000-94117200	Weak transcription	Lung	lung
17	chr1:94102000-94119800	Weak transcription	HSMMtube	muscle
18	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
19	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:94102600-94114200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:94102600-94119200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:94102800-94119000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:94103800-94108600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:94104200-94108600	Strong transcription	HUVEC	blood vessel
27	chr1:94104400-94108400	Strong transcription	NHLF	lung
28	chr1:94104800-94117600	Weak transcription	HepG2	liver
29	chr1:94105000-94109200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:94105000-94109200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:94105000-94109600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:94105000-94110000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:94105000-94110200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:94105000-94110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:94105000-94110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:94105000-94113800	Weak transcription	Brain Anterior Caudate	brain
37	chr1:94105000-94118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:94105400-94108400	Strong transcription	Adipose Nuclei	Adipose
39	chr1:94105600-94108400	Strong transcription	Osteobl	bone
40	chr1:94105800-94117200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:94106000-94108600	Strong transcription	Placenta	Placenta
42	chr1:94106000-94108800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:94106400-94109200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:94106400-94126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:94106600-94114400	Strong transcription	HMEC	breast
46	chr1:94106800-94115200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:94106800-94118800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:94107000-94108400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:94107000-94114400	Weak transcription	Left Ventricle	heart
50	chr1:94107200-94125600	Weak transcription	Aorta	Aorta

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