Variant report

Variant	rs7675343
Chromosome Location	chr4:148658108-148658109
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	chr4:148656183..148658281-chr4:148663299..148667161,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252951	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17475681	0.85[LWK][hapmap]
rs924780	1.00[LWK][hapmap]

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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7675343	OTUD4	cis	parietal	SCAN
rs7675343	NR3C2	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148654600-148658200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:148654800-148658200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:148654800-148658200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr4:148654800-148658200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:148655200-148658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:148655400-148662600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:148655400-148662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:148655600-148658200	Enhancers	HMEC	breast
9	chr4:148655600-148662600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:148655600-148662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:148655800-148658200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:148655800-148658200	Enhancers	Hela-S3	cervix
14	chr4:148655800-148660200	Weak transcription	Placenta	Placenta
15	chr4:148655800-148663400	Enhancers	Fetal Heart	heart
16	chr4:148655800-148665600	Weak transcription	Lung	lung
17	chr4:148656000-148659200	Enhancers	Adipose Nuclei	Adipose
18	chr4:148656000-148659400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:148656000-148660000	Enhancers	Colon Smooth Muscle	Colon
20	chr4:148656000-148662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:148656400-148658200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr4:148656400-148658200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:148656400-148658800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:148656600-148661800	Weak transcription	Fetal Lung	lung
25	chr4:148656600-148676800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:148656800-148658200	Flanking Active TSS	NHEK	skin
27	chr4:148656800-148658800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:148656800-148659200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:148656800-148659200	Enhancers	Psoas Muscle	Psoas
30	chr4:148656800-148660200	Enhancers	Left Ventricle	heart
31	chr4:148656800-148662800	Weak transcription	Small Intestine	intestine
32	chr4:148656800-148675200	Weak transcription	Fetal Stomach	stomach
33	chr4:148657000-148658200	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:148657000-148658200	Enhancers	HSMM	muscle
35	chr4:148657000-148663000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:148657000-148668600	Weak transcription	Gastric	stomach
37	chr4:148657200-148658200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr4:148657200-148658200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:148657200-148658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:148657400-148658200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:148657400-148659000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:148657400-148659200	Enhancers	Right Ventricle	heart
43	chr4:148657400-148662800	Weak transcription	Esophagus	oesophagus
44	chr4:148657400-148668600	Weak transcription	Fetal Intestine Small	intestine
45	chr4:148657600-148658200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:148657600-148658200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr4:148657600-148658200	Enhancers	NHDF-Ad	bronchial
48	chr4:148657600-148659200	Enhancers	HSMMtube	muscle
49	chr4:148657600-148659200	Enhancers	NH-A	brain
50	chr4:148657600-148659200	Enhancers	NHLF	lung

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