Variant report

Variant	rs807530
Chromosome Location	chr6:24545939-24545940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24539832..24541848-chr6:24544860..24546446,2	MCF-7	breast:
2	chr6:24534085..24537392-chr6:24543907..24547453,3	K562	blood:
3	chr6:24544075..24545945-chr6:24559657..24561591,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1091031	0.80[EUR][1000 genomes]
rs1091033	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2744598	0.83[CHB][hapmap]
rs2744600	0.83[CHB][hapmap]

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	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs807530	HIST1H4L	cis	parietal	SCAN
rs807530	ALDH5A1	cis	lung	GTEx
rs807530	FAM65B	cis	cerebellum	SCAN
rs807530	GPLD1	cis	Esophagus Muscularis	GTEx
rs807530	HIST1H4D	cis	parietal	SCAN
rs807530	MRS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
2	chr6:24535000-24546200	Weak transcription	Pancreas	Pancrea
3	chr6:24535000-24547400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:24535200-24566600	Weak transcription	Brain Germinal Matrix	brain
5	chr6:24535200-24591200	Weak transcription	Fetal Brain Male	brain
6	chr6:24535400-24550000	Weak transcription	Gastric	stomach
7	chr6:24535600-24546000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:24535600-24546800	Weak transcription	Dnd41	blood
9	chr6:24535600-24547400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:24535600-24560600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:24535600-24560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:24535600-24563200	Weak transcription	Brain Angular Gyrus	brain
13	chr6:24535600-24583400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:24537000-24546200	Weak transcription	Fetal Heart	heart
15	chr6:24538200-24546000	Weak transcription	HepG2	liver
16	chr6:24538200-24547400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:24538400-24547400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:24539200-24583200	Weak transcription	Fetal Intestine Small	intestine
19	chr6:24540200-24556200	Weak transcription	Fetal Brain Female	brain
20	chr6:24540800-24546400	Weak transcription	Liver	Liver
21	chr6:24540800-24547400	Weak transcription	Fetal Thymus	thymus
22	chr6:24540800-24547400	Weak transcription	Thymus	Thymus
23	chr6:24540800-24547600	Weak transcription	Fetal Stomach	stomach
24	chr6:24544800-24546200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:24545600-24546000	Enhancers	HMEC	breast
26	chr6:24545600-24546200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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