Variant report

Variant	rs36035506
Chromosome Location	chr7:150057843-150057844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150041697..150043495-chr7:150057616..150059500,2	K562	blood:
2	chr7:150055052..150056576-chr7:150057801..150059416,2	K562	blood:
3	chr7:150019173..150023075-chr7:150052530..150058157,7	K562	blood:

Variant related genes	Relation type
ENSG00000127399	Chromatin interaction
ENSG00000106526	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs10248490	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10259796	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10282458	0.90[ASN][1000 genomes]
rs10952252	0.90[ASN][1000 genomes]
rs1132261	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11767409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768108	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12703061	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13223702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13238964	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13307276	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17173681	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17173682	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17173702	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17173703	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2098053	0.84[ASN][1000 genomes]
rs28432021	0.90[ASN][1000 genomes]
rs28439010	0.90[ASN][1000 genomes]
rs34311995	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34489187	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34495356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34728606	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35435439	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35635199	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35840727	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36069544	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66688634	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68107602	0.85[EUR][1000 genomes]
rs6946097	0.80[AMR][1000 genomes]
rs6946153	0.80[AMR][1000 genomes]
rs6964110	0.83[ASN][1000 genomes]
rs71537957	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73170192	0.82[ASN][1000 genomes]
rs7800196	0.84[EUR][1000 genomes]
rs883138	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv3393415	chr7:150055019-150058517	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3424871	chr7:150055219-150058517	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs36035506	REPIN1	cis	Muscle Skeletal	GTEx
rs36035506	ZBED6CL	cis	Esophagus Muscularis	GTEx
rs36035506	LRRC61	cis	Thyroid	GTEx
rs36035506	LRRC61	cis	Esophagus Mucosa	GTEx
rs36035506	C7orf29	Cis_1M	lymphoblastoid	RTeQTL
rs36035506	LRRC61	Cis_1M	lymphoblastoid	RTeQTL
rs36035506	LRRC61	cis	Muscle Skeletal	GTEx
rs36035506	LRRC61	cis	Skin Sun Exposed Lower leg	GTEx
rs36035506	LRRC61	cis	Nerve Tibial	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150039200-150065000	Weak transcription	Right Atrium	heart
2	chr7:150044000-150058000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:150052000-150061000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:150053000-150058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:150053000-150058400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:150053200-150065000	Enhancers	Fetal Thymus	thymus
7	chr7:150054800-150058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:150055000-150058800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:150055200-150058400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:150055200-150058400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:150055200-150058600	Weak transcription	Placenta	Placenta
12	chr7:150055200-150059200	Weak transcription	Primary B cells from cord blood	blood
13	chr7:150055200-150059400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:150055200-150060200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:150055200-150060200	Weak transcription	HSMM	muscle
16	chr7:150055200-150060600	Weak transcription	Adipose Nuclei	Adipose
17	chr7:150055200-150060600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:150055200-150061000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:150055200-150063000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:150055200-150064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:150055200-150065000	Weak transcription	Spleen	Spleen
22	chr7:150055400-150058400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:150055400-150058400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:150055400-150058600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:150055400-150058600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:150055400-150058600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:150055400-150060600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:150055600-150058600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:150056400-150058600	Weak transcription	HepG2	liver
30	chr7:150056400-150060600	Weak transcription	Primary T cells from cord blood	blood
31	chr7:150056400-150060800	Weak transcription	Fetal Intestine Large	intestine
32	chr7:150056400-150061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:150056400-150064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:150056400-150064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:150056600-150058400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:150056600-150058800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:150056600-150060600	Weak transcription	GM12878-XiMat	blood
38	chr7:150056600-150061000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:150056800-150058600	Weak transcription	Fetal Intestine Small	intestine
40	chr7:150056800-150060600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:150056800-150060600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:150056800-150060800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:150057200-150058400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:150057200-150058400	Weak transcription	Brain Germinal Matrix	brain
45	chr7:150057200-150058600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:150057200-150060800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:150057200-150061000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:150057400-150058000	Weak transcription	Gastric	stomach
49	chr7:150057400-150058600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:150057400-150058800	Weak transcription	Fetal Kidney	kidney

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