Variant report

Variant	rs34311995
Chromosome Location	chr7:150059255-150059256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150041697..150043495-chr7:150057616..150059500,2	K562	blood:
2	chr7:150040205..150042908-chr7:150058651..150061334,2	MCF-7	breast:
3	chr7:150018681..150020697-chr7:150058439..150060132,2	MCF-7	breast:
4	chr7:150055052..150056576-chr7:150057801..150059416,2	K562	blood:
5	chr7:150058189..150060647-chr7:150112613..150115187,2	MCF-7	breast:
6	chr7:150014201..150017150-chr7:150057916..150059881,2	K562	blood:
7	chr7:150020496..150023930-chr7:150059013..150060732,3	MCF-7	breast:
8	chr7:150013529..150015903-chr7:150058495..150060887,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106526	Chromatin interaction
ENSG00000127399	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10248490	0.89[EUR][1000 genomes]
rs10259796	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10480297	0.82[ASN][1000 genomes]
rs1132261	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767409	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11768108	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12703061	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13223702	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13238964	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13307276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17173681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173702	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17173703	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1983441	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34495356	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34728606	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35435439	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35635199	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35840727	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36035506	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36069544	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66688634	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6946097	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6946153	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71537957	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71537958	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7800196	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv275249	chr7:150058251-150060163	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs34311995	LRRC61	cis	Skin Sun Exposed Lower leg	GTEx
rs34311995	REPIN1	cis	Muscle Skeletal	GTEx
rs34311995	ZBED6CL	cis	Esophagus Muscularis	GTEx
rs34311995	LRRC61	Cis_1M	lymphoblastoid	RTeQTL
rs34311995	LRRC61	cis	Muscle Skeletal	GTEx
rs34311995	LRRC61	cis	Thyroid	GTEx
rs34311995	LRRC61	cis	Nerve Tibial	GTEx
rs34311995	C7orf29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150039200-150065000	Weak transcription	Right Atrium	heart
2	chr7:150052000-150061000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:150053200-150065000	Enhancers	Fetal Thymus	thymus
4	chr7:150055200-150059400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:150055200-150060200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:150055200-150060200	Weak transcription	HSMM	muscle
7	chr7:150055200-150060600	Weak transcription	Adipose Nuclei	Adipose
8	chr7:150055200-150060600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:150055200-150061000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:150055200-150063000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:150055200-150064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:150055200-150065000	Weak transcription	Spleen	Spleen
13	chr7:150055400-150060600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:150056400-150060600	Weak transcription	Primary T cells from cord blood	blood
15	chr7:150056400-150060800	Weak transcription	Fetal Intestine Large	intestine
16	chr7:150056400-150061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:150056400-150064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:150056400-150064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:150056600-150060600	Weak transcription	GM12878-XiMat	blood
20	chr7:150056600-150061000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr7:150056800-150060600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:150056800-150060600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:150056800-150060800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:150057200-150060800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:150057200-150061000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:150057400-150060800	Weak transcription	HSMMtube	muscle
27	chr7:150057800-150061000	Weak transcription	K562	blood
28	chr7:150058000-150061600	Enhancers	Fetal Muscle Leg	muscle
29	chr7:150058400-150059400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:150058400-150059600	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:150058400-150059800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:150058400-150060000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:150058400-150060000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:150058400-150060200	Enhancers	Fetal Heart	heart
35	chr7:150058400-150060600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:150058400-150060800	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:150058400-150061400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:150058400-150061400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:150058400-150061400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:150058400-150061600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:150058400-150061600	Enhancers	Fetal Muscle Trunk	muscle
42	chr7:150058400-150061800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:150058400-150061800	Flanking Active TSS	Dnd41	blood
44	chr7:150058600-150059800	Enhancers	Left Ventricle	heart
45	chr7:150058600-150059800	Enhancers	HepG2	liver
46	chr7:150058600-150060400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:150058600-150060400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:150058600-150060600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:150058600-150061400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:150058600-150061600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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