Variant report

Variant	rs1051823
Chromosome Location	chr7:150070814-150070815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150064930-150072034	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:150069798-150072038	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:150069962-150070969	K562	blood:	n/a	n/a
4	POLR2A	chr7:150069346-150072105	GM12892	blood:	n/a	n/a
5	MAZ	chr7:150070573-150070921	K562	blood:	n/a	n/a
6	CHD2	chr7:150070731-150070890	K562	blood:	n/a	n/a
7	POLR2A	chr7:150069466-150070970	GM12878	blood:	n/a	n/a
8	YY1	chr7:150070639-150070919	K562	blood:	n/a	n/a
9	RCOR1	chr7:150070703-150070828	K562	blood:	n/a	n/a
10	RCOR1	chr7:150070465-150070858	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:150069579-150070974	K562	blood:	n/a	n/a
12	SPI1	chr7:150070765-150070905	K562	blood:	n/a	n/a
13	POLR2A	chr7:150065010-150072093	GM12878	blood:	n/a	n/a
14	MXI1	chr7:150070723-150070993	GM12878	blood:	n/a	n/a
15	RCOR1	chr7:150070648-150070919	K562	blood:	n/a	n/a
16	TBL1XR1	chr7:150070764-150070955	K562	blood:	n/a	n/a
17	POLR2A	chr7:150070641-150070952	ECC-1	luminal epithelium:	n/a	n/a
18	TBL1XR1	chr7:150070575-150070862	K562	blood:	n/a	n/a
19	POLR2A	chr7:150070179-150070992	GM19099	blood:	n/a	n/a
20	POLR2A	chr7:150065044-150070916	GM19193	blood:	n/a	n/a
21	POLR2A	chr7:150070405-150070946	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr7:150070711-150070911	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:150064968-150071009	K562	blood:	n/a	n/a
24	POLR2A	chr7:150070458-150070897	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:150068924-150072074	HL-60	blood:	n/a	n/a
26	POLR2A	chr7:150069942-150070992	GM12891	blood:	n/a	n/a
27	SPI1	chr7:150070657-150070994	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:150069990-150071018	K562	blood:	n/a	n/a
29	JUND	chr7:150070722-150070915	K562	blood:	n/a	n/a
30	POLR2A	chr7:150068187-150072706	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:150069604-150071006	GM12891	blood:	n/a	n/a
32	POLR2A	chr7:150065009-150070940	GM18505	blood:	n/a	n/a
33	POLR2A	chr7:150069727-150071177	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:150070645-150070845	HepG2	liver:	n/a	n/a
35	POLR2A	chr7:150064952-150072087	GM12892	blood:	n/a	n/a
36	POLR2A	chr7:150069785-150070972	K562	blood:	n/a	n/a
37	ZMIZ1	chr7:150070623-150070835	K562	blood:	n/a	n/a
38	MAX	chr7:150070715-150070938	GM12878	blood:	n/a	n/a
39	ELF1	chr7:150070648-150070970	K562	blood:	n/a	n/a
40	POLR2A	chr7:150070459-150071056	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:150069494-150072013	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:150064843-150076606	K562	blood:	n/a	n/a
43	POLR2A	chr7:150069673-150072066	GM12892	blood:	n/a	n/a
44	RAD21	chr7:150070632-150070820	K562	blood:	n/a	n/a
45	CBX3	chr7:150070516-150070994	K562	blood:	n/a	n/a
46	CHD2	chr7:150070668-150070865	GM12878	blood:	n/a	n/a
47	NR2F2	chr7:150070435-150071301	K562	blood:	n/a	n/a
48	TEAD4	chr7:150070503-150070955	K562	blood:	n/a	n/a
49	CCNT2	chr7:150070666-150070871	K562	blood:	n/a	n/a
50	ZBTB7A	chr7:150070662-150070869	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
2	chr7:149552909..149554975-chr7:150070039..150072542,2	MCF-7	breast:
3	chr7:150019286..150021465-chr7:150069323..150073240,4	MCF-7	breast:
4	chr7:150013799..150016585-chr7:150070801..150072302,2	K562	blood:
5	chr7:150026034..150028099-chr7:150070313..150072987,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240449	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000106479	Chromatin interaction
ENSG00000188707	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000106526	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10248975	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10259796	0.80[CEU][hapmap]
rs10264443	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10271869	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10278277	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10282458	0.89[CEU][hapmap]
rs1047575	0.84[CEU][hapmap]
rs1051760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952250	0.89[CEU][hapmap]
rs10952251	0.87[ASN][1000 genomes]
rs1132261	0.89[CEU][hapmap]
rs11764936	0.89[CEU][hapmap]
rs11769348	0.89[CEU][hapmap]
rs11771677	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11771693	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11972067	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17173681	0.95[CEU][hapmap]
rs17173682	0.95[CEU][hapmap]
rs1983440	0.85[CEU][hapmap]
rs1983441	0.85[EUR][1000 genomes]
rs28398138	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3735165	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735166	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3735167	0.84[CEU][hapmap]
rs3735169	0.89[CEU][hapmap]
rs3735170	0.89[CEU][hapmap]
rs3735171	0.89[CEU][hapmap]
rs3735172	0.89[CEU][hapmap]
rs3757423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757424	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554381	0.85[CEU][hapmap]
rs6722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946097	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6946153	0.87[EUR][1000 genomes]
rs6964110	0.89[CEU][hapmap]
rs71537958	0.86[EUR][1000 genomes]
rs7800196	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9640161	0.91[CHB][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
5	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
6	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
7	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
8	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
9	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
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription 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
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS 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
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv889459	chr7:150041610-150071464	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	nsv889460	chr7:150060163-150079459	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
19	nsv889461	chr7:150060163-150081485	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
20	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1051823	LRRC61	cis	Skin Sun Exposed Lower leg	GTEx
rs1051823	C7orf29	Cis_1M	lymphoblastoid	RTeQTL
rs1051823	ZBED6CL	cis	Esophagus Muscularis	GTEx
rs1051823	LRRC61	cis	Muscle Skeletal	GTEx
rs1051823	REPIN1	cis	Muscle Skeletal	GTEx
rs1051823	LRRC61	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150065400-150073600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr7:150067200-150071000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:150067200-150072000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
4	chr7:150067400-150071200	Genic enhancers	Right Ventricle	heart
5	chr7:150067400-150071400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:150067400-150072000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:150067600-150071600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:150067600-150071800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:150067600-150071800	Genic enhancers	Liver	Liver
10	chr7:150067600-150072000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:150067600-150072000	Genic enhancers	Pancreas	Pancrea
12	chr7:150067800-150071200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:150067800-150071400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:150067800-150071800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:150067800-150071800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:150067800-150072000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:150068000-150071600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:150068000-150071800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr7:150068000-150072000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:150068000-150072000	Enhancers	Fetal Heart	heart
21	chr7:150068000-150072000	Strong transcription	A549	lung
22	chr7:150068000-150073000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:150068000-150073000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:150068000-150073000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:150068200-150071400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:150068200-150071600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:150068200-150071800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr7:150068200-150072000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:150068200-150073400	Weak transcription	Fetal Kidney	kidney
30	chr7:150068200-150075400	Weak transcription	HMEC	breast
31	chr7:150068400-150071200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:150068400-150071200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:150068400-150071800	Strong transcription	Osteobl	bone
34	chr7:150068400-150074000	Genic enhancers	Fetal Intestine Small	intestine
35	chr7:150068600-150071600	Strong transcription	HUVEC	blood vessel
36	chr7:150068600-150072000	Strong transcription	NHLF	lung
37	chr7:150068800-150071200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:150068800-150072000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:150068800-150072400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:150068800-150075200	Weak transcription	NH-A	brain
41	chr7:150069000-150072000	Strong transcription	Brain Germinal Matrix	brain
42	chr7:150069000-150075200	Weak transcription	Fetal Brain Male	brain
43	chr7:150069200-150072200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:150069400-150071000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
45	chr7:150069400-150071800	Strong transcription	HSMMtube	muscle
46	chr7:150069600-150071200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:150069600-150071600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr7:150069600-150071600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
49	chr7:150069600-150071800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:150069600-150071800	Genic enhancers	Esophagus	oesophagus

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