Variant report

Variant	rs1191228
Chromosome Location	chr1:94532562-94532563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94532482..94534156-chr1:94582374..94584202,2	MCF-7	breast:
2	chr1:94532251..94537168-chr1:94582958..94586481,4	MCF-7	breast:
3	chr1:94529817..94533865-chr1:94534670..94536843,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1191232	0.81[JPT][hapmap]
rs17110929	0.85[AMR][1000 genomes]
rs521538	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs539435	0.81[AMR][1000 genomes]
rs553608	0.95[CEU][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs581244	0.81[EUR][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	nsv871172	chr1:94504545-94535546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94521000-94534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94522200-94533800	Weak transcription	Aorta	Aorta
3	chr1:94522600-94533200	Weak transcription	Gastric	stomach
4	chr1:94522800-94533400	Weak transcription	Stomach Mucosa	stomach
5	chr1:94523200-94533600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:94526200-94533600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:94527600-94534200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:94527800-94534400	Weak transcription	HSMMtube	muscle
9	chr1:94528000-94533000	Weak transcription	HMEC	breast
10	chr1:94528000-94533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:94528000-94533800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:94528000-94534400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:94528200-94533000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:94529000-94533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:94529000-94533600	Weak transcription	HSMM	muscle
16	chr1:94529200-94533600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:94529400-94533000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:94529400-94533600	Weak transcription	Fetal Intestine Large	intestine
19	chr1:94529400-94533800	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:94529600-94534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:94529800-94533000	Weak transcription	A549	lung
22	chr1:94529800-94533000	Weak transcription	Osteobl	bone
23	chr1:94529800-94533800	Weak transcription	Brain Substantia Nigra	brain
24	chr1:94529800-94534000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:94529800-94534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:94530000-94533200	Weak transcription	NHLF	lung
27	chr1:94530000-94533600	Weak transcription	Lung	lung
28	chr1:94530000-94533600	Weak transcription	Psoas Muscle	Psoas
29	chr1:94530000-94533600	Weak transcription	Right Atrium	heart
30	chr1:94530000-94534000	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:94530000-94534000	Weak transcription	Fetal Lung	lung
32	chr1:94530000-94534200	Weak transcription	Small Intestine	intestine
33	chr1:94530000-94534400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:94530000-94534400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:94530000-94535600	Weak transcription	Esophagus	oesophagus
36	chr1:94530000-94537600	Weak transcription	Fetal Heart	heart
37	chr1:94530200-94533000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:94530200-94533000	Weak transcription	HepG2	liver
39	chr1:94530200-94533600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:94530200-94533800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:94530200-94534200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:94530200-94534400	Weak transcription	Ovary	ovary
43	chr1:94530200-94534400	Weak transcription	NHDF-Ad	bronchial
44	chr1:94530400-94533200	Weak transcription	Adipose Nuclei	Adipose
45	chr1:94530400-94533600	Weak transcription	Left Ventricle	heart
46	chr1:94530400-94534000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:94530400-94534400	Weak transcription	Right Ventricle	heart
48	chr1:94530600-94533000	Weak transcription	Fetal Kidney	kidney
49	chr1:94530600-94533600	Weak transcription	Spleen	Spleen
50	chr1:94530600-94534200	Weak transcription	Fetal Stomach	stomach

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