Variant report

Variant	rs10271154
Chromosome Location	chr7:150782071-150782072
allele	C/T
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	MXI1	chr7:150782041-150783707	K562	blood:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
2	PBX3	chr7:150782068-150782227	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
4	MXI1	chr7:150781993-150782280	GM12878	blood:	n/a	n/a
5	CEBPB	chr7:150781857-150782157	K562	blood:	n/a	chr7:150781985-150781996
6	FOS	chr7:150781975-150782109	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr7:150782005-150782265	HepG2	liver:	n/a	n/a
8	MAX	chr7:150781901-150783891	K562	blood:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
9	CEBPB	chr7:150781823-150782117	A549	lung:	n/a	chr7:150781985-150781996
10	MXI1	chr7:150781826-150785809	IMR90	lung:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
11	ZNF384	chr7:150781975-150782109	K562	blood:	n/a	n/a
12	NRF1	chr7:150782071-150782290	HepG2	liver:	n/a	n/a
13	USF2	chr7:150782043-150782113	GM12878	blood:	n/a	n/a
14	CEBPB	chr7:150781820-150782166	IMR90	lung:	n/a	chr7:150781985-150781996
15	MXI1	chr7:150781831-150783920	SK-N-SH	brain:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
16	NR2F2	chr7:150782056-150783395	K562	blood:	n/a	n/a
17	CEBPB	chr7:150781817-150782172	K562	blood:	n/a	chr7:150781985-150781996
18	CBX3	chr7:150781821-150783731	K562	blood:	n/a	n/a
19	POLR2A	chr7:150781785-150782121	HepG2	liver:	n/a	n/a
20	KAP1	chr7:150782020-150782551	K562	blood:	n/a	n/a
21	NRF1	chr7:150782027-150783724	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150781128..150782793-chr7:150928748..150931080,2	MCF-7	breast:
2	chr1:155049689..155051785-chr7:150780053..150782856,2	MCF-7	breast:
3	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
4	chr7:150695075..150697082-chr7:150780811..150782403,2	MCF-7	breast:

Variant related genes	Relation type
TMUB1	TF binding region
AGAP3	TF binding region
FASTK	TF binding region
ENSG00000183665	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000033100	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10227172	0.82[EUR][1000 genomes]
rs10245199	0.88[MEX][hapmap]
rs10270107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1050734	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11765015	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11765200	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11773852	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13225215	0.80[EUR][1000 genomes]
rs13239507	0.95[CEU][hapmap];0.92[GIH][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs1549760	0.84[MEX][hapmap]
rs2069443	0.81[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs2069456	0.84[MEX][hapmap]
rs2303929	0.81[CEU][hapmap];0.92[MEX][hapmap];0.80[TSI][hapmap]
rs28667841	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34812229	0.84[EUR][1000 genomes]
rs4725388	0.95[CEU][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs6464124	0.83[EUR][1000 genomes]
rs6464126	0.95[CEU][hapmap];0.95[GIH][hapmap];0.83[EUR][1000 genomes]
rs6464127	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6464128	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6945151	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7798453	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
4	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	44 gene(s)	inside rSNPs	diseases
13	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
19	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS 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	45 gene(s)	inside rSNPs	diseases
20	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
21	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
22	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
23	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10271154	CENTG3	cis	multi-tissue	Pritchard

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150780600-150782600	Weak transcription	Small Intestine	intestine
2	chr7:150780800-150782800	Weak transcription	Aorta	Aorta
3	chr7:150781000-150782200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:150781000-150782200	Weak transcription	HSMMtube	muscle
5	chr7:150781000-150782400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:150781000-150782400	Weak transcription	Brain Substantia Nigra	brain
7	chr7:150781000-150782400	Weak transcription	Fetal Kidney	kidney
8	chr7:150781000-150782400	Enhancers	Fetal Muscle Leg	muscle
9	chr7:150781000-150782400	Weak transcription	Gastric	stomach
10	chr7:150781000-150782400	Weak transcription	Left Ventricle	heart
11	chr7:150781000-150782400	Weak transcription	Right Atrium	heart
12	chr7:150781000-150782400	Weak transcription	Spleen	Spleen
13	chr7:150781000-150782600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:150781000-150782600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:150781000-150782600	Weak transcription	Esophagus	oesophagus
16	chr7:150781000-150782600	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:150781000-150782600	Weak transcription	Lung	lung
18	chr7:150781000-150782600	Weak transcription	Ovary	ovary
19	chr7:150781000-150782600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:150781000-150783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:150781000-150783000	Enhancers	Fetal Heart	heart
22	chr7:150781200-150782200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:150781200-150782200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:150781200-150782200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:150781200-150782200	Weak transcription	Adipose Nuclei	Adipose
26	chr7:150781200-150782200	Weak transcription	Brain Anterior Caudate	brain
27	chr7:150781200-150782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:150781200-150782200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:150781200-150782200	Weak transcription	Placenta	Placenta
30	chr7:150781200-150782200	Weak transcription	Fetal Stomach	stomach
31	chr7:150781200-150782200	Weak transcription	Stomach Mucosa	stomach
32	chr7:150781200-150782200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:150781200-150782200	Enhancers	Hela-S3	cervix
34	chr7:150781200-150782200	Weak transcription	NHLF	lung
35	chr7:150781200-150782400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:150781200-150782400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:150781200-150782400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:150781200-150782400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:150781200-150782400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:150781200-150782400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:150781200-150782400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr7:150781200-150782400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:150781200-150782400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:150781200-150782400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:150781200-150782400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr7:150781200-150782400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:150781200-150782400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:150781200-150782400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:150781200-150782400	Weak transcription	Brain Angular Gyrus	brain
50	chr7:150781200-150782400	Weak transcription	Brain Cingulate Gyrus	brain

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