Variant report

Variant	rs760855
Chromosome Location	chr6:144656653-144656654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr6:144656408-144656800	HL-60	blood:	n/a	n/a
2	SPI1	chr6:144656482-144656763	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144651729..144654747-chr6:144656256..144659237,4	MCF-7	breast:
2	chr6:144656543..144658129-chr6:144660023..144661876,2	K562	blood:

Variant related genes	Relation type
ENSG00000225311	TF binding region
ENSG00000225311	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2328569	0.87[MEX][hapmap]
rs2473154	0.80[CEU][hapmap]
rs2502636	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2982240	0.97[EUR][1000 genomes]
rs637232	0.82[MEX][hapmap]
rs675261	0.87[MEX][hapmap]
rs6904422	0.87[ASW][hapmap]
rs7765923	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs926397	0.80[CEU][hapmap]
rs926398	0.80[CEU][hapmap]
rs9376819	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9386066	0.81[AMR][1000 genomes];0.81[EUR][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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs760855	SAMD5	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144639600-144660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:144642200-144659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:144643800-144663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:144648200-144661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
6	chr6:144649400-144660000	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:144651600-144659800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:144652000-144657000	Weak transcription	Small Intestine	intestine
9	chr6:144652000-144657200	Weak transcription	Fetal Intestine Large	intestine
10	chr6:144652000-144661000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:144652000-144668200	Weak transcription	Aorta	Aorta
12	chr6:144653000-144661200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:144653200-144657200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:144653400-144657200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:144653400-144658000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:144653400-144658000	Weak transcription	Ovary	ovary
18	chr6:144653400-144658000	Weak transcription	NHDF-Ad	bronchial
19	chr6:144653400-144660000	Weak transcription	A549	lung
20	chr6:144653400-144661200	Weak transcription	Brain Anterior Caudate	brain
21	chr6:144653400-144662800	Weak transcription	Osteobl	bone
22	chr6:144653400-144665200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:144653600-144658000	Weak transcription	Fetal Lung	lung
24	chr6:144653600-144661400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:144653600-144662000	Weak transcription	NHLF	lung
26	chr6:144653600-144665000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:144654800-144658400	Enhancers	HSMMtube	muscle
28	chr6:144654800-144658800	Genic enhancers	HepG2	liver
29	chr6:144655000-144656800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:144655200-144657000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:144655200-144657200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:144655200-144657200	Enhancers	Fetal Muscle Leg	muscle
33	chr6:144655200-144657600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:144655200-144657600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:144655200-144657600	Enhancers	NHEK	skin
36	chr6:144655200-144658000	Enhancers	Gastric	stomach
37	chr6:144655200-144658400	Enhancers	Left Ventricle	heart
38	chr6:144655400-144657400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:144655400-144657400	Enhancers	Right Atrium	heart
40	chr6:144655400-144662000	Weak transcription	HUVEC	blood vessel
41	chr6:144655600-144656800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr6:144655600-144657000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr6:144655600-144657200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr6:144655600-144657200	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr6:144655600-144658200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:144655600-144658200	Enhancers	Placenta	Placenta
47	chr6:144655600-144658400	Enhancers	Esophagus	oesophagus
48	chr6:144655600-144658400	Enhancers	Lung	lung
49	chr6:144655600-144658400	Enhancers	Pancreas	Pancrea
50	chr6:144655600-144658400	Enhancers	Sigmoid Colon	Sigmoid Colon

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