Variant report

Variant	rs7534250
Chromosome Location	chr1:228920464-228920465
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228920120..228921964-chr1:228925515..228927236,2	K562	blood:

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

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

rs_ID	r²[population]
rs73097677	1.00[AMR][1000 genomes]
rs73099554	1.00[AMR][1000 genomes]
rs73099569	1.00[AMR][1000 genomes]
rs73099572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228912600-228920800	Weak transcription	Fetal Thymus	thymus
2	chr1:228915400-228921200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:228916600-228920600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:228916800-228921000	Enhancers	Fetal Intestine Small	intestine
5	chr1:228917000-228921000	Enhancers	Fetal Intestine Large	intestine
6	chr1:228917400-228921400	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:228917600-228921400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:228917600-228921400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:228918000-228921400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:228918000-228921400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:228918200-228920600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:228918600-228921400	Weak transcription	Fetal Lung	lung
13	chr1:228918600-228921400	Weak transcription	Left Ventricle	heart
14	chr1:228918600-228928200	Weak transcription	Spleen	Spleen
15	chr1:228918800-228921800	Enhancers	Placenta	Placenta
16	chr1:228919000-228922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:228919200-228921400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:228919200-228921400	Weak transcription	Psoas Muscle	Psoas
19	chr1:228919400-228920600	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:228919400-228920600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr1:228919600-228920600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:228919600-228920600	Enhancers	Colonic Mucosa	Colon
23	chr1:228919600-228920600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:228919600-228921200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:228919800-228921200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:228920400-228921600	Enhancers	Fetal Stomach	stomach

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