Variant report

Variant	rs13272985
Chromosome Location	chr8:54635596-54635597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54632819..54637804-chr8:54638171..54641276,4	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13257826	0.80[EUR][1000 genomes]
rs13259921	1.00[CEU][hapmap]
rs56338526	1.00[AFR][1000 genomes]
rs62515797	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13272985	ATP6V1H	cis	cerebellum	SCAN
rs13272985	SIRPG	trans	lymphoblastoid	seeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54620800-54636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:54620800-54636200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:54624200-54635800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:54624200-54640600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:54624600-54639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:54625000-54640000	Weak transcription	Fetal Thymus	thymus
9	chr8:54625000-54642000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:54625200-54635800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:54625200-54639800	Weak transcription	Thymus	Thymus
12	chr8:54625200-54641200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:54625400-54636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:54625400-54636200	Weak transcription	Aorta	Aorta
17	chr8:54625400-54639200	Weak transcription	Brain Anterior Caudate	brain
18	chr8:54625400-54639400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:54625400-54639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:54625400-54639600	Weak transcription	Fetal Lung	lung
21	chr8:54625400-54639800	Weak transcription	Fetal Intestine Large	intestine
22	chr8:54625400-54639800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:54625400-54639800	Weak transcription	HMEC	breast
24	chr8:54625400-54639800	Weak transcription	NH-A	brain
25	chr8:54625400-54640000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:54625400-54640600	Weak transcription	Fetal Brain Female	brain
27	chr8:54625400-54640600	Weak transcription	Psoas Muscle	Psoas
28	chr8:54625400-54640600	Weak transcription	Right Ventricle	heart
29	chr8:54625400-54640600	Weak transcription	NHLF	lung
30	chr8:54625400-54641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:54625400-54642000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:54625400-54642000	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:54625400-54645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:54625400-54645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:54625400-54646800	Weak transcription	Fetal Kidney	kidney
38	chr8:54625400-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:54625600-54635600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:54625600-54635800	Weak transcription	NHEK	skin
41	chr8:54625600-54639400	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:54625600-54640400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:54625600-54640800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:54625600-54642000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:54625600-54644400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:54625600-54647000	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:54626000-54637800	Weak transcription	HSMMtube	muscle
48	chr8:54626200-54640000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:54626400-54647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:54626600-54636200	Weak transcription	K562	blood

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