Variant report

Variant	rs2108851
Chromosome Location	chr7:150019634-150019635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:150 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr7:150019027-150021103	K562	blood:	n/a	n/a
2	CEBPB	chr7:150019183-150020275	K562	blood:	n/a	n/a
3	SMARCA4	chr7:150019611-150021724	K562	blood:	n/a	n/a
4	STAT3	chr7:150019505-150020210	GM12878	blood:	n/a	chr7:150019659-150019670
5	POLR2A	chr7:150019063-150020988	K562	blood:	n/a	n/a
6	SREBP1	chr7:150019233-150021870	GM12878	blood:	n/a	n/a
7	ELK1	chr7:150019513-150019780	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:150019076-150021113	HepG2	liver:	n/a	n/a
9	MYC	chr7:150019334-150021318	K562	blood:	n/a	n/a
10	TBL1XR1	chr7:150019513-150020430	K562	blood:	n/a	n/a
11	MYC	chr7:150019358-150021028	K562	blood:	n/a	n/a
12	POLR2A	chr7:150018810-150021240	GM12892	blood:	n/a	n/a
13	MYC	chr7:150019424-150021111	K562	blood:	n/a	n/a
14	TBL1XR1	chr7:150019299-150021577	K562	blood:	n/a	n/a
15	USF2	chr7:150019176-150020237	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:150018930-150021583	GM12878	blood:	n/a	n/a
17	YY1	chr7:150019092-150021130	GM12878	blood:	n/a	n/a
18	JUN	chr7:150019613-150020540	K562	blood:	n/a	n/a
19	YY1	chr7:150019349-150019837	K562	blood:	n/a	n/a
20	NFATC1	chr7:150019480-150020630	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:150019461-150021081	GM18951	blood:	n/a	n/a
22	POLR2A	chr7:150019080-150021119	GM18526	blood:	n/a	n/a
23	GTF2B	chr7:150019609-150020991	K562	blood:	n/a	n/a
24	NFIC	chr7:150019183-150020961	GM12878	blood:	n/a	n/a
25	MAX	chr7:150019408-150021072	K562	blood:	n/a	n/a
26	TAL1	chr7:150019210-150020415	K562	blood:	n/a	chr7:150019230-150019245
27	POLR2A	chr7:150018925-150021290	GM12892	blood:	n/a	n/a
28	JUND	chr7:150019083-150021555	GM12878	blood:	n/a	n/a
29	EP300	chr7:150019288-150021186	K562	blood:	n/a	chr7:150021055-150021062
30	ELK1	chr7:150019601-150020918	K562	blood:	n/a	n/a
31	MAZ	chr7:150019489-150021532	K562	blood:	n/a	n/a
32	SRF	chr7:150019404-150019808	K562	blood:	n/a	n/a
33	JUND	chr7:150019173-150021056	K562	blood:	n/a	n/a
34	PML	chr7:150019114-150021080	K562	blood:	n/a	n/a
35	CUX1	chr7:150019144-150020412	K562	blood:	n/a	n/a
36	POLR2A	chr7:150018867-150022802	HepG2	liver:	n/a	n/a
37	MTA3	chr7:150018981-150021441	GM12878	blood:	n/a	n/a
38	MAX	chr7:150019542-150021157	HepG2	liver:	n/a	n/a
39	UBTF	chr7:150019487-150021860	K562	blood:	n/a	n/a
40	POLR2A	chr7:150019309-150021071	Hela-S3	cervix:	n/a	n/a
41	TRIM28	chr7:150019366-150020997	K562	blood:	n/a	n/a
42	YY1	chr7:150019028-150019827	K562	blood:	n/a	n/a
43	BHLHE40	chr7:150019579-150021341	GM12878	blood:	n/a	n/a
44	STAT3	chr7:150019437-150019843	MCF10A-Er-Src	breast:	n/a	chr7:150019659-150019670
45	ZBTB7A	chr7:150019569-150020860	K562	blood:	n/a	n/a
46	POLR2A	chr7:150019199-150020641	GM12891	blood:	n/a	n/a
47	YY1	chr7:150019125-150019751	K562	blood:	n/a	n/a
48	NR2F2	chr7:150019078-150021180	K562	blood:	n/a	n/a
49	POLR2A	chr7:150019056-150021390	GM19193	blood:	n/a	n/a
50	MYC	chr7:150019498-150021062	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150019150..150025305-chr7:150035524..150043799,10	MCF-7	breast:
2	chr7:150018389..150025798-chr7:150030734..150040389,17	MCF-7	breast:
3	chr7:150019286..150021465-chr7:150069323..150073240,4	MCF-7	breast:
4	chr7:150019550..150021994-chr7:150069161..150070677,2	K562	blood:
5	chr7:150017186..150022010-chr7:150063447..150067622,10	K562	blood:
6	chr7:150016171..150021897-chr7:150062899..150068795,19	MCF-7	breast:
7	chr7:150017073..150026383-chr7:150074145..150079980,13	MCF-7	breast:
8	chr7:150017660..150019696-chr7:150021703..150024720,3	MCF-7	breast:
9	chr7:148822477..148824067-chr7:150018763..150021367,2	MCF-7	breast:
10	chr7:150018966..150021782-chr7:150094675..150098930,7	K562	blood:
11	chr7:150017819..150020177-chr7:150077421..150080084,2	MCF-7	breast:
12	chr7:150018539..150023441-chr7:150073756..150077036,7	MCF-7	breast:
13	chr7:150017344..150021301-chr7:150099535..150103707,10	K562	blood:
14	chr7:150018857..150021301-chr7:150100532..150103886,6	K562	blood:
15	chr7:150018458..150023402-chr7:150064103..150067772,7	MCF-7	breast:
16	chr7:150019591..150022356-chr7:150674947..150677441,2	K562	blood:
17	chr7:150017186..150022141-chr7:150063447..150068849,12	K562	blood:
18	chr7:150018966..150021939-chr7:150095611..150098750,5	K562	blood:

No data

Variant related genes	Relation type
LRRC61	TF binding region
ENSG00000106538	Chromatin interaction
ENSG00000240877	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000261305	Chromatin interaction
ENSG00000240449	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000204947	Chromatin interaction
ENSG00000197024	Chromatin interaction
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 19 )

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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464752	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464753	0.93[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	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159235	1.00[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	0.88[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	0.92[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]
rs73170174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:10 , 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
9	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs2108851	LRRC61	cis	Muscle Skeletal	GTEx
rs2108851	LRRC61	cis	Adipose Subcutaneous	GTEx
rs2108851	ACTR3C	cis	Muscle Skeletal	GTEx
rs2108851	C7orf29	Cis_1M	lymphoblastoid	RTeQTL
rs2108851	RARRES2	cis	multi-tissue	Pritchard
rs2108851	LRRC61	cis	Esophagus Mucosa	GTEx
rs2108851	LRRC61	cis	Artery Tibial	GTEx
rs2108851	LRRC61	cis	Artery Aorta	GTEx
rs2108851	ZBED6CL	cis	Whole Blood	GTEx
rs2108851	LRRC61	cis	Nerve Tibial	GTEx
rs2108851	ZBED6CL	cis	Esophagus Muscularis	GTEx
rs2108851	LRRC61	cis	Whole Blood	GTEx
rs2108851	LRRC61	cis	Thyroid	GTEx
rs2108851	REPIN1	cis	Muscle Skeletal	GTEx
rs2108851	LRRC61	Cis_1M	lymphoblastoid	RTeQTL
rs2108851	ZBED6CL	cis	lung	GTEx
rs2108851	ZBED6CL	cis	Esophagus Mucosa	GTEx
rs2108851	LRRC61	cis	lung	GTEx
rs2108851	LRRC61	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150009400-150020000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:150015400-150020200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:150016200-150019800	Enhancers	Placenta	Placenta
4	chr7:150017400-150020000	Weak transcription	HUVEC	blood vessel
5	chr7:150017800-150019800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:150018000-150019800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:150018000-150020000	Flanking Active TSS	Hela-S3	cervix
8	chr7:150018200-150020200	Flanking Active TSS	K562	blood
9	chr7:150018200-150020800	Weak transcription	HSMM	muscle
10	chr7:150018200-150021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150018800-150020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:150019000-150019800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:150019000-150019800	Flanking Active TSS	Liver	Liver
14	chr7:150019000-150019800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr7:150019000-150019800	Enhancers	Right Atrium	heart
16	chr7:150019000-150019800	Flanking Active TSS	Dnd41	blood
17	chr7:150019000-150019800	Flanking Active TSS	HepG2	liver
18	chr7:150019000-150020000	Enhancers	Gastric	stomach
19	chr7:150019000-150020000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:150019000-150022000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:150019200-150019800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:150019200-150019800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr7:150019200-150019800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:150019200-150019800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr7:150019200-150019800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:150019200-150019800	Active TSS	Brain Anterior Caudate	brain
27	chr7:150019200-150019800	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:150019200-150019800	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr7:150019200-150019800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr7:150019200-150020000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr7:150019200-150020000	Enhancers	Spleen	Spleen
32	chr7:150019200-150020200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr7:150019200-150020800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:150019200-150021000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr7:150019200-150022000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:150019200-150022000	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:150019400-150019800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr7:150019400-150019800	Flanking Active TSS	Fetal Brain Male	brain
39	chr7:150019400-150019800	Enhancers	Fetal Heart	heart
40	chr7:150019400-150019800	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr7:150019400-150019800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr7:150019400-150020000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:150019400-150020000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr7:150019400-150020000	Flanking Active TSS	Fetal Brain Female	brain
45	chr7:150019400-150020000	Flanking Active TSS	Fetal Kidney	kidney
46	chr7:150019400-150020200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr7:150019400-150020200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr7:150019400-150020200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr7:150019400-150020200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr7:150019400-150020200	Flanking Active TSS	Stomach Mucosa	stomach

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