Variant report

Variant	rs6467181
Chromosome Location	chr7:128173389-128173390
allele	A/C
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	FOS	chr7:128173055-128173417	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:128173022-128173428	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr7:128173259-128173395	HUVEC	blood vessel:	n/a	n/a
4	GATA2	chr7:128173191-128173436	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr7:128173199-128173399	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:128173230-128173476	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:128173168-128173413	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr7:128173137-128173402	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr7:128173060-128173417	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr7:128173135-128173399	MCF10A-Er-Src	breast:	n/a	chr7:128173346-128173354 chr7:128173260-128173269
11	GATA3	chr7:128173218-128173436	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000273270	TF binding region
ENSG00000242588	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10085435	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223975	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10224862	0.82[AMR][1000 genomes]
rs10227608	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231136	0.87[EUR][1000 genomes]
rs10233059	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241185	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs10250369	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253131	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10259359	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261037	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269844	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270431	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10954205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11760285	1.00[ASN][1000 genomes]
rs11761312	0.85[AMR][1000 genomes]
rs11761662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11766319	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11769546	1.00[ASN][1000 genomes]
rs11770604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11771884	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333625	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12530672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12537208	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224451	0.87[AFR][1000 genomes]
rs13224613	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13224784	0.90[AFR][1000 genomes]
rs13226592	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13233642	0.83[AFR][1000 genomes]
rs13235219	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246302	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247746	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28496126	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521260	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521711	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs339070	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34120723	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34125589	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34490491	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34751214	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34887739	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35247963	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35825132	0.85[AMR][1000 genomes]
rs35871589	0.83[EUR][1000 genomes]
rs4289745	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes]
rs4338038	0.87[AFR][1000 genomes]
rs55953818	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57049631	0.92[AFR][1000 genomes]
rs60029447	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654313	0.85[EUR][1000 genomes]
rs6467184	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467201	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6958343	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960296	0.85[AMR][1000 genomes]
rs6961754	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6963982	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967393	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6969343	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971819	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs6976879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes]
rs6977126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes]
rs71546785	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546786	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71548762	0.85[AMR][1000 genomes]
rs71578280	1.00[ASN][1000 genomes]
rs7776915	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777625	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778169	0.80[EUR][1000 genomes]
rs7778731	0.82[AMR][1000 genomes]
rs7786772	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787764	0.82[AMR][1000 genomes]
rs7790478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7790839	0.85[EUR][1000 genomes]
rs7794447	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7798172	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801678	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7804472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes]
rs7810047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7811083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9690225	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690934	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9692416	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9768808	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9769753	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326672	chr7:128169741-128173589	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs6467181	RP11-274B21.10	cis	Thyroid	GTEx
rs6467181	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs6467181	CICP14	cis	lung	GTEx
rs6467181	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs6467181	CICP14	cis	Esophagus Muscularis	GTEx
rs6467181	RP11-274B21.10	cis	Nerve Tibial	GTEx
rs6467181	CICP14	cis	Nerve Tibial	GTEx
rs6467181	CICP14	cis	Muscle Skeletal	GTEx
rs6467181	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs6467181	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs6467181	CICP14	cis	Thyroid	GTEx
rs6467181	CICP14	cis	Artery Tibial	GTEx
rs6467181	CICP14	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128169600-128174200	Active TSS	Fetal Brain Female	brain
2	chr7:128169800-128173600	Active TSS	NHDF-Ad	bronchial
3	chr7:128169800-128173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:128169800-128174000	Active TSS	NHLF	lung
5	chr7:128170000-128173400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:128170000-128173400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:128170000-128173400	Active TSS	Right Ventricle	heart
8	chr7:128170000-128173600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:128170000-128173600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:128170000-128173600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:128170000-128173600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:128170000-128173600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:128170000-128173600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:128170000-128173600	Active TSS	Brain Germinal Matrix	brain
15	chr7:128170000-128173600	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:128170000-128173600	Active TSS	HMEC	breast
17	chr7:128170200-128173400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr7:128170200-128173400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:128170200-128173400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr7:128170200-128173600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:128170200-128173600	Active TSS	HSMM	muscle
22	chr7:128170200-128174000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:128170200-128174000	Active TSS	HSMMtube	muscle
24	chr7:128170400-128173400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:128170400-128173400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:128170400-128173400	Weak transcription	Fetal Heart	heart
27	chr7:128170400-128173600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:128170400-128173600	Active TSS	Psoas Muscle	Psoas
29	chr7:128170400-128174000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:128170400-128174200	Active TSS	GM12878-XiMat	blood
31	chr7:128170600-128173400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:128170600-128173400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:128170600-128173400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:128170600-128173400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:128170600-128173400	Active TSS	K562	blood
36	chr7:128170600-128173600	Active TSS	Fetal Muscle Leg	muscle
37	chr7:128170600-128173600	Active TSS	NH-A	brain
38	chr7:128171800-128173800	Active TSS	Right Atrium	heart
39	chr7:128171800-128174000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:128172000-128173800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:128172200-128173600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:128172200-128173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:128172200-128174000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:128172600-128173400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:128172600-128173600	Weak transcription	Aorta	Aorta
46	chr7:128172600-128173800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:128172600-128173800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:128172600-128173800	Enhancers	Fetal Lung	lung
49	chr7:128172600-128174000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:128172600-128174600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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