Variant report

Variant	rs7707229
Chromosome Location	chr5:145453522-145453523
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	chr5:145453270..145454815-chr5:145478262..145480933,2	K562	blood:

Variant related genes	Relation type
ENSG00000251556	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10491259	0.82[YRI][hapmap]
rs2063002	0.82[YRI][hapmap]
rs2939522	0.91[YRI][hapmap]
rs2939534	0.91[YRI][hapmap]
rs2939536	0.82[YRI][hapmap]
rs2939538	0.90[YRI][hapmap]
rs2962500	0.91[YRI][hapmap]
rs2962505	0.91[YRI][hapmap]
rs2962507	0.91[YRI][hapmap]
rs2962514	0.91[YRI][hapmap]
rs2962516	0.91[YRI][hapmap]
rs2963937	0.91[YRI][hapmap]
rs6877277	0.82[YRI][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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145429600-145459600	Weak transcription	Stomach Mucosa	stomach
2	chr5:145442400-145461200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:145443200-145458000	Weak transcription	Liver	Liver
4	chr5:145443600-145461000	Weak transcription	Colonic Mucosa	Colon
5	chr5:145447400-145455000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:145447600-145455400	Weak transcription	Fetal Intestine Large	intestine
7	chr5:145448000-145460000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:145448200-145455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:145448400-145458000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:145448600-145455800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:145449800-145454200	Enhancers	Left Ventricle	heart
12	chr5:145450000-145458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:145450600-145461000	Weak transcription	Right Atrium	heart
14	chr5:145451000-145459800	Weak transcription	Esophagus	oesophagus
15	chr5:145451600-145458200	Weak transcription	NHEK	skin
16	chr5:145451800-145456800	Enhancers	Fetal Heart	heart
17	chr5:145451800-145459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:145451800-145459000	Weak transcription	HMEC	breast
19	chr5:145451800-145460000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:145451800-145460600	Weak transcription	Aorta	Aorta
21	chr5:145452200-145459400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:145452400-145454000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:145452600-145453600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr5:145452600-145453600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:145452800-145453600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr5:145452800-145453600	Bivalent Enhancer	Fetal Lung	lung
27	chr5:145453000-145454200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:145453200-145453600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
29	chr5:145453200-145453600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:145453200-145453600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr5:145453200-145453600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
32	chr5:145453200-145453600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr5:145453200-145453600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:145453200-145453600	Enhancers	Pancreas	Pancrea
35	chr5:145453200-145453600	Enhancers	Right Ventricle	heart
36	chr5:145453200-145455800	Weak transcription	Brain Germinal Matrix	brain
37	chr5:145453400-145453600	Enhancers	Psoas Muscle	Psoas
38	chr5:145453400-145454800	Weak transcription	Fetal Brain Female	brain
39	chr5:145453400-145455600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:145453400-145455600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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