Variant report

Variant	rs73170174
Chromosome Location	chr7:150016523-150016524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150016167-150017249	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:150016471-150017234	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150014201..150017150-chr7:150057916..150059881,2	K562	blood:
2	chr7:150016171..150021897-chr7:150062899..150068795,19	MCF-7	breast:
3	chr7:150015754..150018552-chr7:150022043..150024814,2	MCF-7	breast:
4	chr7:150015545..150018371-chr7:150018521..150022002,4	MCF-7	breast:
5	chr7:150014370..150017313-chr7:150124547..150126790,2	K562	blood:
6	chr7:150015503..150017317-chr7:150079075..150081047,2	K562	blood:
7	chr7:150013799..150016585-chr7:150070801..150072302,2	K562	blood:
8	chr7:150015892..150017404-chr7:150095731..150098272,2	MCF-7	breast:
9	chr7:150016043..150018728-chr7:150071723..150073696,2	MCF-7	breast:
10	chr7:150011213..150016878-chr7:150064606..150067835,7	K562	blood:
11	chr7:150016446..150018907-chr7:150027927..150030542,2	MCF-7	breast:
12	chr7:150016445..150018121-chr7:150116375..150118836,2	K562	blood:
13	chr7:150015287..150018843-chr7:150110338..150114504,3	K562	blood:

No data

Variant related genes	Relation type
LRRC61	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000239377	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1047207	0.81[EUR][1000 genomes]
rs10952249	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10952250	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11764936	0.88[EUR][1000 genomes]
rs11765644	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11765692	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11766288	0.86[EUR][1000 genomes]
rs11767726	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769348	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11773351	0.87[EUR][1000 genomes]
rs11974980	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11975886	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11983355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464752	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464753	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17173617	0.81[EUR][1000 genomes]
rs17837498	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1916932	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962004	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1983440	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108853	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159234	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159236	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373751	0.88[EUR][1000 genomes]
rs3088207	0.86[EUR][1000 genomes]
rs3735167	0.82[EUR][1000 genomes]
rs3735169	0.86[EUR][1000 genomes]
rs3735170	0.86[EUR][1000 genomes]
rs3735171	0.87[EUR][1000 genomes]
rs3735172	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735173	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735174	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735175	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800780	0.88[EUR][1000 genomes]
rs3800781	0.88[EUR][1000 genomes]
rs4395803	0.88[EUR][1000 genomes]
rs4554381	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55715989	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55881542	0.88[EUR][1000 genomes]
rs55974958	0.81[EUR][1000 genomes]
rs56019796	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56190213	0.88[EUR][1000 genomes]
rs56923535	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56998970	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57888387	0.88[EUR][1000 genomes]
rs59572505	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60268791	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60283368	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60467296	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61421252	0.81[EUR][1000 genomes]
rs73170169	0.88[EUR][1000 genomes]
rs73170185	0.88[EUR][1000 genomes]
rs7781827	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7788316	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7806429	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv508490	chr7:150006068-150051241	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 target site	50 gene(s)	inside rSNPs	diseases
6	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs73170174	LRRC61	cis	Skin Sun Exposed Lower leg	GTEx
rs73170174	LRRC61	cis	Adipose Subcutaneous	GTEx
rs73170174	LRRC61	cis	Stomach	GTEx
rs73170174	ZBED6CL	cis	Whole Blood	GTEx
rs73170174	ZBED6CL	cis	Esophagus Muscularis	GTEx
rs73170174	ACTR3C	cis	Muscle Skeletal	GTEx
rs73170174	ZBED6CL	cis	lung	GTEx
rs73170174	ZBED6CL	cis	Esophagus Mucosa	GTEx
rs73170174	LRRC61	cis	Esophagus Mucosa	GTEx
rs73170174	LRRC61	cis	Muscle Skeletal	GTEx
rs73170174	LRRC61	cis	Artery Tibial	GTEx
rs73170174	LRRC61	cis	Artery Aorta	GTEx
rs73170174	LRRC61	cis	Thyroid	GTEx
rs73170174	LRRC61	cis	Whole Blood	GTEx
rs73170174	REPIN1	cis	Muscle Skeletal	GTEx
rs73170174	LRRC61	cis	lung	GTEx
rs73170174	LRRC61	cis	Nerve Tibial	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149984200-150019400	Weak transcription	Colonic Mucosa	Colon
2	chr7:149992400-150018000	Weak transcription	Fetal Intestine Small	intestine
3	chr7:150004000-150019000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:150007600-150018000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:150009400-150017000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:150009400-150020000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:150009800-150017000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150010200-150017000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:150010400-150018200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:150011000-150019000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:150011000-150019600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:150011200-150019200	Weak transcription	Spleen	Spleen
13	chr7:150011400-150016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:150011400-150017200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:150011400-150017600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:150011400-150019000	Weak transcription	Gastric	stomach
17	chr7:150011600-150019000	Weak transcription	Stomach Mucosa	stomach
18	chr7:150012800-150019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:150013200-150019200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:150013400-150016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:150014000-150017800	Weak transcription	HepG2	liver
22	chr7:150014000-150018000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:150014000-150019000	Weak transcription	Primary T cells from cord blood	blood
24	chr7:150014000-150019200	Weak transcription	Primary B cells from cord blood	blood
25	chr7:150014200-150016800	Weak transcription	Hela-S3	cervix
26	chr7:150014200-150018200	Weak transcription	NHLF	lung
27	chr7:150014400-150018200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:150015000-150019000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:150015000-150019200	Weak transcription	Thymus	Thymus
30	chr7:150015000-150019400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:150015200-150018200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:150015200-150019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:150015200-150019000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:150015200-150019600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:150015400-150019000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:150015400-150020200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:150015600-150016800	Weak transcription	HUVEC	blood vessel
38	chr7:150015600-150019200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:150015600-150019400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:150015600-150019400	Weak transcription	NHEK	skin
41	chr7:150015800-150016800	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:150015800-150017800	Genic enhancers	K562	blood
43	chr7:150016000-150016600	Enhancers	Primary B cells from peripheral blood	blood
44	chr7:150016000-150017800	Enhancers	GM12878-XiMat	blood
45	chr7:150016000-150019000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:150016200-150019800	Enhancers	Placenta	Placenta
47	chr7:150016400-150017000	Enhancers	Esophagus	oesophagus
48	chr7:150016400-150019000	Enhancers	Liver	Liver
49	chr7:150016400-150019000	Enhancers	Pancreas	Pancrea

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