Variant report

Variant	rs36069544
Chromosome Location	chr7:150061538-150061539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr7:150060778-150061586	HL-60	blood:	n/a	n/a
2	POLR2A	chr7:150060868-150061579	HL-60	blood:	n/a	n/a
3	POLR2A	chr7:150061538-150061726	MCF10A-Er-Src	breast:	n/a	n/a
4	MTA3	chr7:150060803-150061542	GM12878	blood:	n/a	n/a
5	MAX	chr7:150061013-150061615	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150059551..150061730-chr7:150106999..150109857,2	MCF-7	breast:
2	chr7:150027711..150029644-chr7:150060584..150062726,2	MCF-7	breast:
3	chr7:150060431..150062175-chr7:150102140..150104050,2	MCF-7	breast:

Variant related genes	Relation type
ZNF775	TF binding region
REPIN1	TF binding region
ENSG00000196456	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10248490	0.88[EUR][1000 genomes]
rs10259796	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10480297	0.81[ASN][1000 genomes]
rs1132261	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766288	0.81[AFR][1000 genomes]
rs11767409	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11768108	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12703061	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13223702	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13238964	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13307276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17173681	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17173682	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17173702	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17173703	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1983441	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2373751	0.81[AFR][1000 genomes]
rs34311995	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34489187	0.88[AFR][1000 genomes]
rs34495356	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34728606	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35435439	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35635199	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35840727	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36035506	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3735167	0.81[AFR][1000 genomes]
rs56402329	0.81[AFR][1000 genomes]
rs57888387	0.81[AFR][1000 genomes]
rs66688634	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6946097	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6946153	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71537957	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71537958	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73170169	0.81[AFR][1000 genomes]
rs7800196	0.91[EUR][1000 genomes];0.84[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs36069544	LRRC61	cis	Nerve Tibial	GTEx
rs36069544	LRRC61	cis	Skin Sun Exposed Lower leg	GTEx
rs36069544	C7orf29	Cis_1M	lymphoblastoid	RTeQTL
rs36069544	ZBED6CL	cis	Esophagus Muscularis	GTEx
rs36069544	REPIN1	cis	Muscle Skeletal	GTEx
rs36069544	LRRC61	cis	Muscle Skeletal	GTEx
rs36069544	LRRC61	cis	Thyroid	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150039200-150065000	Weak transcription	Right Atrium	heart
2	chr7:150053200-150065000	Enhancers	Fetal Thymus	thymus
3	chr7:150055200-150063000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:150055200-150064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:150055200-150065000	Weak transcription	Spleen	Spleen
6	chr7:150056400-150064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:150056400-150064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150058000-150061600	Enhancers	Fetal Muscle Leg	muscle
9	chr7:150058400-150061600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:150058400-150061600	Enhancers	Fetal Muscle Trunk	muscle
11	chr7:150058400-150061800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:150058400-150061800	Flanking Active TSS	Dnd41	blood
13	chr7:150058600-150061600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:150058600-150061600	Enhancers	Placenta	Placenta
15	chr7:150058600-150061800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:150058600-150061800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr7:150058600-150064800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:150059000-150062800	Weak transcription	Fetal Intestine Small	intestine
19	chr7:150059000-150064800	Enhancers	Thymus	Thymus
20	chr7:150059000-150065200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:150059200-150064600	Enhancers	Primary B cells from cord blood	blood
22	chr7:150059200-150065000	Weak transcription	Psoas Muscle	Psoas
23	chr7:150059400-150063200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:150059400-150065000	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:150059600-150064800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:150059800-150064200	Weak transcription	Liver	Liver
27	chr7:150059800-150064400	Weak transcription	HepG2	liver
28	chr7:150059800-150064800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:150059800-150065000	Weak transcription	Left Ventricle	heart
30	chr7:150060000-150064800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:150060200-150061600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:150060200-150061600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:150060200-150063200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:150060200-150065000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:150060200-150065000	Weak transcription	Fetal Heart	heart
36	chr7:150060400-150062800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:150060400-150065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:150060600-150061600	Enhancers	HUVEC	blood vessel
39	chr7:150060600-150061800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr7:150060600-150061800	Enhancers	Adipose Nuclei	Adipose
41	chr7:150060600-150062800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:150060600-150062800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr7:150060600-150064600	Enhancers	Primary T cells from cord blood	blood
44	chr7:150060600-150064800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:150060600-150065200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:150060800-150061600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr7:150060800-150061600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:150060800-150064800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr7:150061000-150061600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr7:150061000-150061600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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