Variant report

Variant	rs4554381
Chromosome Location	chr7:150025567-150025568
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	POLR2A	chr7:150025460-150031517	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:150025523-150025748	K562	blood:	n/a	n/a
3	POLR2A	chr7:150025492-150031674	K562	blood:	n/a	n/a
4	POLR2A	chr7:150025364-150029644	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150018389..150025798-chr7:150030734..150040389,17	MCF-7	breast:
2	chr7:150017073..150026383-chr7:150074145..150079980,13	MCF-7	breast:
3	chr7:150022690..150024481-chr7:150024522..150026288,2	MCF-7	breast:

Variant related genes	Relation type
ACTR3C	TF binding region
ZBED6CL	TF binding region
ENSG00000106538	Chromatin interaction
ENSG00000261305	Chromatin interaction
ENSG00000196456	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10247016	0.80[ASN][1000 genomes]
rs10259796	0.85[CEU][hapmap]
rs10282458	0.90[CEU][hapmap]
rs1047207	0.83[EUR][1000 genomes]
rs1047575	0.94[CEU][hapmap]
rs1051760	0.90[CEU][hapmap]
rs1051764	0.90[CEU][hapmap]
rs1051823	0.85[CEU][hapmap]
rs10952249	0.88[EUR][1000 genomes]
rs10952250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1132261	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs11764936	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11765644	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11765692	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766288	0.82[EUR][1000 genomes]
rs11767726	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11769348	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11773351	0.89[EUR][1000 genomes]
rs11974980	0.85[CEU][hapmap];0.83[CHB][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11975886	0.82[CEU][hapmap];0.83[CHB][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11983355	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1464752	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464753	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17173617	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs17173681	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs17173682	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs17837498	0.88[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1916932	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1962004	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs1983440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2098053	0.81[EUR][1000 genomes]
rs2108851	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108852	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108853	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108854	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159234	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2159235	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159236	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2373751	0.91[EUR][1000 genomes]
rs3088207	0.89[EUR][1000 genomes]
rs3735167	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs3735169	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3735170	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3735171	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3735172	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735173	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735174	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735175	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757423	0.90[CEU][hapmap]
rs3757425	0.85[CEU][hapmap]
rs3800780	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3800781	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4395803	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55715989	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55881542	0.92[EUR][1000 genomes]
rs55974958	0.83[EUR][1000 genomes]
rs56019796	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56190213	0.92[EUR][1000 genomes]
rs56923535	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56998970	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57888387	0.84[EUR][1000 genomes]
rs59572505	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60268791	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60283368	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60467296	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61421252	0.83[EUR][1000 genomes]
rs6722	0.89[CEU][hapmap]
rs6946097	0.85[CEU][hapmap]
rs6964110	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs73170169	0.84[EUR][1000 genomes]
rs73170174	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73170185	0.91[EUR][1000 genomes]
rs7781827	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7788316	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7800196	0.95[CEU][hapmap]
rs7806429	0.85[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
11	nsv516052	chr7:150020295-150034184	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv518774	chr7:150020295-150036664	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs4554381	ZBED6CL	cis	Thyroid	GTEx
rs4554381	LRRC61	cis	Skin Sun Exposed Lower leg	GTEx
rs4554381	LRRC61	cis	Thyroid	GTEx
rs4554381	C7orf29	Cis_1M	lymphoblastoid	RTeQTL
rs4554381	RARRES2	cis	normal skin	skin_eQTL
rs4554381	ZBED6CL	cis	Esophagus Muscularis	GTEx
rs4554381	RARRES2	cis	multi-tissue	Pritchard
rs4554381	ACTR3C	cis	Muscle Skeletal	GTEx
rs4554381	C7orf29	cis	multi-tissue	Pritchard
rs4554381	LRRC61	cis	Stomach	GTEx
rs4554381	ZBED6CL	cis	Whole Blood	GTEx
rs4554381	LRRC61	cis	Artery Aorta	GTEx
rs4554381	LRRC61	cis	Nerve Tibial	GTEx
rs4554381	LRRC61	cis	Artery Tibial	GTEx
rs4554381	LRRC61	cis	lung	GTEx
rs4554381	LRRC61	Cis_1M	lymphoblastoid	RTeQTL
rs4554381	LRRC61	cis	Adipose Subcutaneous	GTEx
rs4554381	LRRC61	cis	Heart Left Ventricle	GTEx
rs4554381	ZBED6CL	cis	lung	GTEx
rs4554381	ZBED6CL	cis	Esophagus Mucosa	GTEx
rs4554381	REPIN1	cis	Muscle Skeletal	GTEx
rs4554381	LRRC61	cis	Esophagus Mucosa	GTEx
rs4554381	LRRC61	cis	Muscle Skeletal	GTEx
rs4554381	LRRC61	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150020400-150030000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:150021400-150026600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:150021400-150029400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:150021400-150037000	Weak transcription	Brain Substantia Nigra	brain
5	chr7:150021600-150025600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:150021600-150026400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:150021600-150026600	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:150021600-150026600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:150021600-150028800	Weak transcription	NHEK	skin
10	chr7:150021800-150025600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:150021800-150026600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:150021800-150030800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:150021800-150032600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:150021800-150033600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:150021800-150037200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:150022000-150025600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:150022000-150026400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:150022000-150032200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:150022000-150032200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:150022000-150036400	Weak transcription	Fetal Kidney	kidney
21	chr7:150022200-150025800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:150022200-150026600	Weak transcription	Colonic Mucosa	Colon
23	chr7:150022200-150031400	Strong transcription	Thymus	Thymus
24	chr7:150022200-150031600	Strong transcription	Fetal Stomach	stomach
25	chr7:150022200-150037200	Weak transcription	Small Intestine	intestine
26	chr7:150022400-150025600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:150022400-150026000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:150022400-150026400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:150022400-150026400	Weak transcription	HSMMtube	muscle
30	chr7:150022400-150027400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:150022400-150029200	Weak transcription	Right Atrium	heart
32	chr7:150022400-150031200	Strong transcription	Primary T cells from cord blood	blood
33	chr7:150022400-150032200	Strong transcription	Fetal Intestine Small	intestine
34	chr7:150022400-150035600	Weak transcription	Fetal Heart	heart
35	chr7:150022400-150037400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:150022600-150025600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:150022600-150025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:150022600-150025600	Weak transcription	Ovary	ovary
39	chr7:150022600-150025800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:150022600-150028200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:150022600-150029000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:150022600-150029200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:150022600-150029400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr7:150022600-150029600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:150022600-150030000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:150022600-150031000	Strong transcription	Fetal Intestine Large	intestine
47	chr7:150022600-150031200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:150022600-150031400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:150022600-150031400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:150022600-150031400	Strong transcription	Fetal Thymus	thymus

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