Variant report

Variant	rs11990493
Chromosome Location	chr8:130433518-130433519
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	chr8:130433486..130436461-chr8:130437244..130438809,2	K562	blood:
2	chr8:130432582..130435209-chr8:130544896..130547721,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-9	chr8:130433122-130434408	ucscGeneNc_uc003ysq_1

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087235	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090670	1.00[ASN][1000 genomes]
rs10094748	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10104020	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10108893	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109055	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112452	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956474	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956476	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11506138	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335056	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28463195	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599610	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28839778	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28840106	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712576	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72712593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714212	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714222	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72714223	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72714224	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9297787	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297788	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643250	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656976	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130427000-130449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130429400-130437600	Enhancers	Dnd41	blood
4	chr8:130429800-130434200	Weak transcription	Thymus	Thymus
5	chr8:130430200-130435600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:130431200-130436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:130431600-130435800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:130432400-130433600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:130432400-130433600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:130432800-130433600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:130432800-130433600	Enhancers	Fetal Heart	heart
12	chr8:130432800-130436600	Enhancers	Fetal Thymus	thymus
13	chr8:130433000-130433600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:130433000-130433600	Enhancers	Psoas Muscle	Psoas
15	chr8:130433000-130433800	Enhancers	HSMM	muscle
16	chr8:130433000-130433800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr8:130433000-130435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:130433000-130435400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:130433200-130434600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:130433200-130436600	Genic enhancers	K562	blood
21	chr8:130433400-130434600	Weak transcription	Right Atrium	heart

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