Variant report

Variant	rs4971093
Chromosome Location	chr1:155144300-155144301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:155144264-155144387	K562	blood:	n/a	n/a
2	HCFC1	chr1:155144135-155146295	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:155144290-155144650	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155056284..155060443-chr1:155143066..155147437,8	MCF-7	breast:
2	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
3	chr1:155056491..155066482-chr1:155136760..155147519,21	K562	blood:
4	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
5	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
6	chr1:155056751..155059603-chr1:155143653..155146036,8	MCF-7	breast:
7	chr1:155021786..155024285-chr1:155144264..155145774,2	MCF-7	breast:
8	chr1:155055553..155060043-chr1:155139937..155145817,8	K562	blood:
9	chr1:155143848..155145847-chr1:155292739..155294361,2	K562	blood:
10	chr1:155105664..155110180-chr1:155143584..155151850,15	MCF-7	breast:
11	chr1:155094769..155105017-chr1:155135344..155151845,46	MCF-7	breast:
12	chr1:155144282..155146428-chr1:155196994..155199261,3	K562	blood:

No data

Variant related genes	Relation type
TRIM46	TF binding region
ENSG00000169242	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000143590	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10157801	0.88[AMR][1000 genomes]
rs1057941	0.87[ASN][1000 genomes]
rs11264333	0.84[AMR][1000 genomes]
rs11264337	0.80[ASN][1000 genomes]
rs11264338	0.80[ASN][1000 genomes]
rs11264339	0.82[ASN][1000 genomes]
rs11799962	0.94[AMR][1000 genomes]
rs12028043	0.92[AMR][1000 genomes]
rs12124306	0.86[AMR][1000 genomes]
rs12127609	0.92[AMR][1000 genomes]
rs12752585	0.80[ASN][1000 genomes]
rs12904	0.84[AMR][1000 genomes]
rs2070803	0.90[ASN][1000 genomes]
rs2075571	0.85[ASN][1000 genomes]
rs34257409	0.94[AMR][1000 genomes]
rs3814316	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs423144	0.86[ASN][1000 genomes]
rs4246529	0.83[AMR][1000 genomes]
rs4276913	0.96[AMR][1000 genomes]
rs4276914	0.82[ASN][1000 genomes]
rs4421576	0.82[ASN][1000 genomes]
rs4460629	0.80[ASN][1000 genomes]
rs4971054	0.85[AMR][1000 genomes]
rs4971059	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4971076	0.94[AMR][1000 genomes]
rs4971085	0.80[ASN][1000 genomes]
rs4971088	0.85[ASN][1000 genomes]
rs4971089	0.82[ASN][1000 genomes]
rs4971091	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4971099	0.82[ASN][1000 genomes]
rs4971100	0.90[ASN][1000 genomes]
rs4971101	0.90[ASN][1000 genomes]
rs7364524	0.94[AMR][1000 genomes]
rs7366775	0.85[ASN][1000 genomes]
rs7556304	0.80[ASN][1000 genomes]
rs9297	0.84[AMR][1000 genomes]
rs9426886	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	434 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4971093	MUC1	cis	Whole Blood	GTEx
rs4971093	GBAP1	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155134200-155145000	Weak transcription	Small Intestine	intestine
2	chr1:155140400-155144800	Weak transcription	Psoas Muscle	Psoas
3	chr1:155140600-155144600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:155140600-155144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:155140600-155144600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:155140800-155144600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:155140800-155144600	Weak transcription	Stomach Mucosa	stomach
8	chr1:155141000-155144600	Strong transcription	Fetal Intestine Small	intestine
9	chr1:155141200-155144400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:155141200-155144400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:155141200-155144400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:155141400-155144400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:155141400-155144400	Strong transcription	K562	blood
14	chr1:155141400-155144600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:155142200-155144400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:155142200-155144400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:155142200-155144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:155142400-155144400	Weak transcription	Fetal Heart	heart
19	chr1:155142400-155144600	Weak transcription	Colonic Mucosa	Colon
20	chr1:155142400-155144600	Weak transcription	Fetal Lung	lung
21	chr1:155142400-155144600	Weak transcription	Left Ventricle	heart
22	chr1:155142400-155144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:155142400-155144800	Weak transcription	Gastric	stomach
24	chr1:155142400-155145000	Weak transcription	Pancreas	Pancrea
25	chr1:155142600-155144400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:155142600-155144400	Weak transcription	NHLF	lung
27	chr1:155142600-155144600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:155142600-155144600	Weak transcription	Brain Substantia Nigra	brain
29	chr1:155142600-155144600	Weak transcription	Right Ventricle	heart
30	chr1:155142600-155144600	Weak transcription	HSMMtube	muscle
31	chr1:155142600-155145000	Weak transcription	Esophagus	oesophagus
32	chr1:155143000-155144400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:155143000-155144600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:155143000-155144600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:155143000-155144800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:155143200-155144400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:155143200-155144400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:155143200-155144400	Weak transcription	Primary T cells from cord blood	blood
39	chr1:155143200-155144400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:155143200-155144400	Weak transcription	Adipose Nuclei	Adipose
41	chr1:155143200-155144400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:155143200-155144400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:155143200-155144400	Weak transcription	HMEC	breast
44	chr1:155143200-155144400	Weak transcription	NH-A	brain
45	chr1:155143200-155144400	Weak transcription	NHDF-Ad	bronchial
46	chr1:155143200-155144400	Weak transcription	NHEK	skin
47	chr1:155143200-155144600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:155143200-155144600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:155143200-155144600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:155143200-155144600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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