Variant report

Variant	rs7691812
Chromosome Location	chr4:141867583-141867584
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	chr4:141866516..141868304-chr4:141870029..141871688,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62325696	0.85[EUR][1000 genomes]
rs62325698	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62325705	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830090	chr4:141770494-141947764	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830091	chr4:141796603-141980546	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880168	chr4:141826780-141900370	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141855600-141867600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:141856000-141875600	Weak transcription	Fetal Kidney	kidney
3	chr4:141859600-141868800	Weak transcription	A549	lung
4	chr4:141859800-141875200	Weak transcription	Fetal Lung	lung
5	chr4:141861400-141876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:141861400-141876600	Weak transcription	Aorta	Aorta
7	chr4:141861800-141868400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:141862200-141891000	Weak transcription	Psoas Muscle	Psoas
9	chr4:141863800-141880600	Weak transcription	Left Ventricle	heart
10	chr4:141864200-141879200	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:141864400-141868600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:141865800-141867800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:141865800-141868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:141865800-141876600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:141866000-141868600	Weak transcription	Ovary	ovary
16	chr4:141866200-141870200	Weak transcription	Brain Germinal Matrix	brain
17	chr4:141866200-141870600	Weak transcription	Fetal Heart	heart
18	chr4:141866200-141875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:141866200-141876200	Weak transcription	Fetal Stomach	stomach
20	chr4:141866400-141867600	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:141866400-141868200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:141866400-141868600	Weak transcription	NHLF	lung
23	chr4:141866400-141868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:141866400-141873600	Weak transcription	NH-A	brain
25	chr4:141866600-141868200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:141866600-141868600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:141866600-141873600	Weak transcription	Osteobl	bone
28	chr4:141867200-141868800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:141867200-141869000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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