Variant report

Variant	rs7164151
Chromosome Location	chr15:35269196-35269197
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	POLR2A	chr15:35268842-35269705	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:35267803-35270462	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:35269147-35269897	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr15:35268400-35275547	K562	blood:	n/a	n/a
5	POLR2A	chr15:35268840-35269442	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:35268498-35269807	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr15:35268916-35269235	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:35268446..35269973-chr15:35278837..35281410,2	MCF-7	breast:
2	chr15:35268497..35270251-chr15:35290176..35292760,2	MCF-7	breast:
3	chr15:35267358..35269882-chr15:35273203..35276166,3	K562	blood:
4	chr15:35266160..35271969-chr15:35278502..35282901,8	K562	blood:

Variant related genes	Relation type
ENSG00000212768	TF binding region
ENSG00000198146	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10152246	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs10438394	0.95[ASN][1000 genomes]
rs10444812	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10519967	0.91[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap]
rs11073076	0.91[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs11629721	0.82[ASN][1000 genomes]
rs11635485	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11636350	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11855784	0.85[CHB][hapmap];0.89[CHD][hapmap]
rs11857217	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs12439825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12441204	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs12442905	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs12591197	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12593603	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12593818	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];0.80[TSI][hapmap]
rs12708534	0.81[ASN][1000 genomes]
rs12899377	0.83[CHB][hapmap]
rs12901394	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12901466	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12901794	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12901991	0.86[CHB][hapmap]
rs12915493	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap]
rs12917386	0.86[CHB][hapmap]
rs1376784	0.91[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap]
rs16959966	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs2060809	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs2060810	0.95[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2060811	0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2060812	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2290320	0.89[CHD][hapmap]
rs2305411	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28498500	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36067547	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3743121	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs3816447	0.91[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[AFR][1000 genomes]
rs3848167	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs4513050	0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs4569214	0.85[CHB][hapmap]
rs4923817	0.90[CEU][hapmap];0.91[CHB][hapmap]
rs4923845	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4923849	1.00[ASW][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924325	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs4924339	0.88[MEX][hapmap]
rs4924344	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs4924357	0.91[CEU][hapmap];0.91[CHB][hapmap]
rs4924369	0.91[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs6495724	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs6495728	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6495729	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6495730	0.90[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7164169	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7164266	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7164977	0.86[CHB][hapmap]
rs7167892	0.90[CEU][hapmap];0.91[CHB][hapmap]
rs7170280	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7172507	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7177337	0.83[ASN][1000 genomes]
rs7177962	0.86[CHB][hapmap]
rs7179205	0.83[ASN][1000 genomes]
rs7179833	0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7181836	0.85[ASN][1000 genomes]
rs7182356	0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs8025770	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs8031861	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8033077	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8037610	0.90[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8040551	0.81[CHB][hapmap];0.89[CHD][hapmap]
rs959478	0.86[CHB][hapmap]
rs963425	0.91[CEU][hapmap];0.91[CHB][hapmap];0.87[MEX][hapmap]
rs9806487	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs9920529	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2761865	chr15:35101678-35271639	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35262000-35276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:35262000-35278600	Weak transcription	Gastric	stomach
3	chr15:35262400-35269600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:35262400-35269600	Weak transcription	HSMM	muscle
5	chr15:35262400-35269800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:35262400-35270000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:35262400-35273200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:35262400-35273400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:35262400-35273400	Weak transcription	GM12878-XiMat	blood
10	chr15:35262400-35273600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:35262400-35273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:35262400-35273600	Weak transcription	Fetal Intestine Large	intestine
13	chr15:35262400-35273600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:35262400-35274600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:35262400-35274600	Weak transcription	NHLF	lung
16	chr15:35262400-35278600	Weak transcription	HSMMtube	muscle
17	chr15:35262400-35279000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:35262400-35279000	Weak transcription	Aorta	Aorta
19	chr15:35262600-35269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:35262600-35269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:35262600-35269800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:35262600-35269800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:35262600-35269800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:35262600-35270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:35262600-35270200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:35262600-35271000	Weak transcription	Fetal Thymus	thymus
27	chr15:35262600-35271200	Weak transcription	A549	lung
28	chr15:35262600-35272800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:35262600-35273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:35262600-35273200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:35262600-35273200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:35262600-35273400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:35262600-35273400	Weak transcription	Primary T cells from cord blood	blood
34	chr15:35262600-35273400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:35262600-35273400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:35262600-35273600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:35262600-35273600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:35262600-35273600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:35262600-35273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:35262600-35273600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:35262600-35273600	Weak transcription	Liver	Liver
42	chr15:35262600-35273600	Weak transcription	Brain Germinal Matrix	brain
43	chr15:35262600-35273600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:35262600-35273600	Weak transcription	Hela-S3	cervix
45	chr15:35262600-35273600	Weak transcription	HMEC	breast
46	chr15:35262600-35273600	Weak transcription	NHEK	skin
47	chr15:35262600-35273800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:35262600-35273800	Weak transcription	Fetal Lung	lung
49	chr15:35262600-35273800	Weak transcription	NHDF-Ad	bronchial
50	chr15:35262600-35274200	Weak transcription	Muscle Satellite Cultured Cells	--

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