Variant report

Variant	rs7604728
Chromosome Location	chr2:173867808-173867809
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	chr2:173867155..173868911-chr2:173885451..173888088,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13033326	0.90[EUR][1000 genomes]
rs1992808	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34125188	0.99[EUR][1000 genomes]
rs35253091	0.90[EUR][1000 genomes]
rs35527769	0.87[EUR][1000 genomes]
rs3754753	0.82[GIH][hapmap]
rs4972392	0.84[EUR][1000 genomes]
rs6760256	0.82[MEX][hapmap]

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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7604728	ITPKB	trans	lymphoblastoid	seeQTL
rs7604728	HOXD9	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173835800-173886800	Weak transcription	Lung	lung
2	chr2:173852400-173868000	Weak transcription	Gastric	stomach
3	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:173856200-173882400	Weak transcription	Left Ventricle	heart
5	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:173858400-173869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:173860600-173868000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:173860800-173877800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:173861000-173888000	Weak transcription	Fetal Stomach	stomach
10	chr2:173861800-173868000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:173862200-173881800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:173862200-173883600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:173862400-173870600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:173862800-173868600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:173862800-173874000	Weak transcription	Small Intestine	intestine
16	chr2:173863400-173871600	Weak transcription	Right Atrium	heart
17	chr2:173864600-173870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:173865000-173868200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:173865600-173868000	Weak transcription	Pancreas	Pancrea
20	chr2:173866600-173868000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:173866600-173868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:173866800-173869000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:173867000-173868200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:173867000-173868200	Enhancers	Fetal Lung	lung
25	chr2:173867000-173868600	Enhancers	Fetal Intestine Large	intestine
26	chr2:173867000-173869000	Active TSS	Ovary	ovary
27	chr2:173867000-173870600	Weak transcription	Fetal Heart	heart
28	chr2:173867400-173868200	Enhancers	Fetal Kidney	kidney
29	chr2:173867400-173868200	Flanking Active TSS	HepG2	liver
30	chr2:173867400-173868600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:173867400-173868600	Enhancers	Stomach Mucosa	stomach
32	chr2:173867600-173868200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:173867600-173868200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:173867600-173868200	Active TSS	A549	lung
35	chr2:173867600-173868400	Flanking Active TSS	Hela-S3	cervix
36	chr2:173867600-173868600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:173867600-173868800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:173867800-173868000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:173867800-173868200	Enhancers	Psoas Muscle	Psoas
40	chr2:173867800-173868800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:173867800-173870600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:173867800-173880800	Weak transcription	Liver	Liver

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