Variant report

Variant	rs7000768
Chromosome Location	chr8:130493148-130493149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130492675..130494347-chr8:130542077..130543976,2	K562	blood:
2	chr8:130484819..130486542-chr8:130491250..130493226,2	K562	blood:
3	chr8:130481659..130484565-chr8:130492634..130494986,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12543365	0.84[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs28538623	0.89[EUR][1000 genomes]
rs6997249	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs891834	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs891835	0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.82[TSI][hapmap];0.97[ASN][1000 genomes]
rs999877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7000768	GSDMC	cis	cerebellum	SCAN
rs7000768	PLEKHF2	trans	cerebellum	SCAN
rs7000768	PHF20L1	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130487800-130494800	Genic enhancers	K562	blood
2	chr8:130490200-130503400	Weak transcription	Dnd41	blood
3	chr8:130491600-130493200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:130491600-130493200	Enhancers	Brain Germinal Matrix	brain
5	chr8:130491600-130493800	Enhancers	Fetal Stomach	stomach
6	chr8:130491800-130493400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:130491800-130493400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:130491800-130493600	Enhancers	Rectal Smooth Muscle	rectum
9	chr8:130492000-130493200	Enhancers	NH-A	brain
10	chr8:130492000-130493200	Enhancers	Osteobl	bone
11	chr8:130492000-130493400	Enhancers	HSMM	muscle
12	chr8:130492000-130493600	Weak transcription	Ovary	ovary
13	chr8:130492000-130494000	Enhancers	Fetal Muscle Leg	muscle
14	chr8:130492200-130493800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:130492200-130493800	Weak transcription	NHLF	lung
16	chr8:130492400-130493200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:130492600-130496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:130492800-130493600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:130492800-130493800	Enhancers	Colon Smooth Muscle	Colon
20	chr8:130492800-130496600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:130492800-130496800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:130492800-130496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:130492800-130497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:130492800-130497200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:130493000-130493200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:130493000-130493400	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:130493000-130493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:130493000-130496200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:130493000-130496400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:130493000-130496800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:130493000-130496800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:130493000-130496800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:130493000-130497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:130493000-130497000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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