Variant report

Variant	rs6677385
Chromosome Location	chr1:155304581-155304582
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155300511..155302599-chr1:155303842..155306575,3	K562	blood:
2	chr1:155222685..155225141-chr1:155303535..155306380,2	K562	blood:
3	chr1:155293557..155296669-chr1:155301653..155305075,3	MCF-7	breast:
4	chr1:155303453..155305737-chr1:155312070..155313825,2	K562	blood:
5	chr1:155302374..155305102-chr1:155305552..155308800,4	MCF-7	breast:
6	chr1:155302806..155304914-chr1:155304916..155307167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225855	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000160753	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10908463	0.81[EUR][1000 genomes]
rs10908467	0.84[AFR][1000 genomes]
rs11264361	0.81[EUR][1000 genomes]
rs11264362	0.84[ASN][1000 genomes]
rs11264363	0.83[ASN][1000 genomes]
rs11264366	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11264367	0.84[EUR][1000 genomes]
rs11264371	0.84[AFR][1000 genomes]
rs11264375	0.83[AFR][1000 genomes]
rs12021631	0.80[ASN][1000 genomes]
rs12024696	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12041534	0.86[AFR][1000 genomes]
rs12046473	0.84[AFR][1000 genomes]
rs12049455	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12131079	0.81[ASN][1000 genomes]
rs12239114	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5005770	0.83[EUR][1000 genomes]
rs6692183	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66923802	0.84[EUR][1000 genomes]
rs71517782	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
6	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6677385	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs6677385	GBAP1	cis	Artery Tibial	GTEx
rs6677385	GBA	cis	Esophagus Mucosa	GTEx
rs6677385	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155295000-155307000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:155295000-155307000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:155295200-155306000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:155295400-155307400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:155295400-155308600	Weak transcription	Psoas Muscle	Psoas
6	chr1:155295800-155306600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:155295800-155307200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:155296000-155307200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:155296000-155309000	Weak transcription	Stomach Mucosa	stomach
10	chr1:155296000-155334400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:155296200-155304600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:155296200-155312800	Weak transcription	Fetal Heart	heart
13	chr1:155296200-155349400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:155296400-155304800	Strong transcription	Fetal Intestine Small	intestine
15	chr1:155296600-155304600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:155296600-155348200	Strong transcription	Fetal Stomach	stomach
17	chr1:155296800-155305200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:155296800-155330000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:155297000-155330800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:155297200-155322600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:155297800-155357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:155298200-155320800	Strong transcription	Fetal Thymus	thymus
23	chr1:155299400-155305000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:155299600-155330200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:155299600-155341200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:155299600-155353600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:155300600-155306600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:155300800-155304600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:155300800-155304800	Weak transcription	NHDF-Ad	bronchial
30	chr1:155300800-155306800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:155300800-155311600	Weak transcription	Small Intestine	intestine
32	chr1:155301000-155304600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:155301000-155304600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:155301000-155304600	Weak transcription	Left Ventricle	heart
35	chr1:155301000-155304600	Weak transcription	HUVEC	blood vessel
36	chr1:155301000-155306800	Weak transcription	Fetal Brain Male	brain
37	chr1:155301000-155307000	Weak transcription	NHEK	skin
38	chr1:155301000-155307000	Weak transcription	NHLF	lung
39	chr1:155301200-155304600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:155301200-155304600	Weak transcription	Brain Substantia Nigra	brain
41	chr1:155301200-155304600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:155301200-155304800	Weak transcription	GM12878-XiMat	blood
43	chr1:155301200-155306400	Weak transcription	K562	blood
44	chr1:155301200-155306800	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:155301200-155306800	Weak transcription	A549	lung
46	chr1:155301200-155306800	Weak transcription	HSMMtube	muscle
47	chr1:155301200-155307000	Weak transcription	Colonic Mucosa	Colon
48	chr1:155301200-155307400	Weak transcription	HMEC	breast
49	chr1:155301200-155332200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:155301400-155304600	Weak transcription	H9 Cell Line	embryonic stem cell

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