Variant report

Variant	rs17110929
Chromosome Location	chr1:94510807-94510808
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94505445..94507921-chr1:94508358..94510832,2	K562	blood:
2	chr1:94510338..94511868-chr1:94800755..94802089,7	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1191228	0.85[AMR][1000 genomes]
rs521538	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs539435	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs553608	0.90[GIH][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17110929	ABCA4	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94505600-94511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:94505600-94511000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:94505600-94511400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:94505600-94514200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:94505800-94511000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:94505800-94511000	Weak transcription	Osteobl	bone
7	chr1:94505800-94511200	Weak transcription	Fetal Kidney	kidney
8	chr1:94505800-94523600	Weak transcription	Psoas Muscle	Psoas
9	chr1:94506600-94513200	Weak transcription	Fetal Heart	heart
10	chr1:94508200-94511200	Enhancers	Adipose Nuclei	Adipose
11	chr1:94508400-94511000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:94508800-94513600	Enhancers	HUVEC	blood vessel
13	chr1:94509600-94511000	Enhancers	Right Atrium	heart
14	chr1:94509600-94511200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:94509600-94511200	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:94509600-94511600	Enhancers	Spleen	Spleen
17	chr1:94509600-94516800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:94509800-94511000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:94509800-94511200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:94509800-94511200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:94509800-94511200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:94509800-94511200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:94509800-94511200	Enhancers	Gastric	stomach
24	chr1:94509800-94511200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:94509800-94511200	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:94509800-94511400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:94509800-94511400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:94509800-94511600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:94509800-94511600	Enhancers	Fetal Intestine Small	intestine
30	chr1:94509800-94511600	Enhancers	NHLF	lung
31	chr1:94509800-94511800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:94509800-94511800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:94509800-94511800	Enhancers	Fetal Stomach	stomach
34	chr1:94509800-94514800	Enhancers	Placenta	Placenta
35	chr1:94509800-94515800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:94509800-94516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:94510000-94511000	Enhancers	A549	lung
38	chr1:94510000-94511600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:94510000-94511600	Enhancers	Pancreas	Pancrea
40	chr1:94510000-94511600	Enhancers	HSMMtube	muscle
41	chr1:94510000-94511800	Enhancers	HMEC	breast
42	chr1:94510000-94511800	Enhancers	HSMM	muscle
43	chr1:94510000-94511800	Enhancers	NH-A	brain
44	chr1:94510000-94514600	Enhancers	Left Ventricle	heart
45	chr1:94510000-94517400	Enhancers	NHDF-Ad	bronchial
46	chr1:94510200-94511000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:94510200-94511000	Enhancers	Brain Anterior Caudate	brain
48	chr1:94510200-94511000	Enhancers	Brain Hippocampus Middle	brain
49	chr1:94510200-94511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:94510200-94511200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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