Variant report

Variant	rs72988623
Chromosome Location	chr4:173995399-173995400
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	chr4:173994321..173996230-chr4:173997138..173999462,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs4535318	0.88[AFR][1000 genomes]
rs57769914	0.88[AFR][1000 genomes]
rs59296615	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6553667	0.88[AFR][1000 genomes]
rs6856376	0.92[AFR][1000 genomes]
rs72988614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988628	0.92[AFR][1000 genomes]
rs72988636	0.88[AFR][1000 genomes]
rs72990708	0.88[AFR][1000 genomes]
rs72990709	0.88[AFR][1000 genomes]
rs73003977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7692988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7697890	1.00[AFR][1000 genomes]

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	nsv949126	chr4:173466221-174051451	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173992400-173995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:173992800-173996800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:173993200-173996600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:173993200-173996600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:173994000-173995400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:173994000-173995600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:173994000-173996000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr4:173994200-173996400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:173994200-173997000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:173994600-173996200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:173994600-173996600	Enhancers	Stomach Mucosa	stomach
12	chr4:173994600-173996800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:173994800-173996000	Enhancers	Colon Smooth Muscle	Colon
14	chr4:173994800-173996200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:173995000-173995400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:173995000-173995600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:173995000-173996000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:173995000-173996200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:173995200-173995400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr4:173995200-173995800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:173995200-173995800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:173995200-173996000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:173995200-173996000	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:173995200-173996000	Enhancers	A549	lung
25	chr4:173995200-173996000	Enhancers	NHDF-Ad	bronchial
26	chr4:173995200-173996200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:173995200-173996200	Enhancers	Hela-S3	cervix
28	chr4:173995200-173996200	Enhancers	HSMM	muscle
29	chr4:173995200-173996400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:173995200-173996600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:173995200-173996600	Enhancers	NHEK	skin
32	chr4:173995200-173996800	Enhancers	HMEC	breast
33	chr4:173995200-173999400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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