Variant report

Variant	rs7516464
Chromosome Location	chr1:71518153-71518154
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:71515710-71520875	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:71517482-71520991	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:71518050-71545780	K562	blood:	n/a	n/a
4	POLR2A	chr1:71513866-71520382	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:71517495-71528843	HepG2	liver:	n/a	n/a
6	RFX5	chr1:71518094-71518167	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71514045..71515688-chr1:71517488..71519472,2	K562	blood:
2	chr1:71516613..71518647-chr1:71521237..71523462,2	K562	blood:
3	chr1:71374929..71377417-chr1:71518030..71520956,2	K562	blood:
4	chr1:70975411..70978050-chr1:71517707..71520694,2	K562	blood:
5	chr1:71517800..71519685-chr1:71543995..71546531,2	MCF-7	breast:

No data

Variant related genes	Relation type
PTGER3	TF binding region
ENSG00000235079	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10493481	0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs11209743	0.81[ASN][1000 genomes]
rs11209745	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11209747	0.81[ASN][1000 genomes]
rs1138177	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12035210	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12084460	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12131265	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs12748649	0.81[ASN][1000 genomes]
rs1431504	0.82[YRI][hapmap]
rs2796199	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap]
rs2796203	0.94[JPT][hapmap];0.81[YRI][hapmap]
rs2817869	0.92[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4272572	0.92[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4579709	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs66461782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6680193	0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7411	0.92[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7519104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs7522835	0.81[YRI][hapmap]
rs7531139	0.80[MEX][hapmap]
rs7551789	0.83[ASW][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs880098	0.83[ASN][1000 genomes]
rs9424959	0.82[YRI][hapmap]
rs9425055	0.83[ASW][hapmap];0.84[LWK][hapmap];0.80[MKK][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs952337	0.94[JPT][hapmap];0.82[YRI][hapmap]

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	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
2	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv945995	chr1:71517111-71520224	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71513600-71533600	Weak transcription	Lung	lung
2	chr1:71514000-71525000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:71514000-71527400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:71514000-71530600	Weak transcription	Ovary	ovary
5	chr1:71514000-71533600	Weak transcription	Pancreas	Pancrea
6	chr1:71514000-71533600	Weak transcription	Right Ventricle	heart
7	chr1:71514200-71518800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:71514200-71524200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:71514200-71533600	Weak transcription	Spleen	Spleen
10	chr1:71514400-71524400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:71515800-71521400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:71515800-71522400	Weak transcription	Liver	Liver
13	chr1:71515800-71522800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:71515800-71523200	Weak transcription	Dnd41	blood
15	chr1:71515800-71524600	Weak transcription	Fetal Brain Female	brain
16	chr1:71515800-71524800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:71515800-71525000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:71515800-71525200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:71515800-71526000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:71515800-71541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:71516000-71520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:71516000-71524400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:71516800-71522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:71517000-71522000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:71517000-71522200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:71517000-71522800	Weak transcription	Fetal Thymus	thymus
27	chr1:71517000-71526000	Weak transcription	Thymus	Thymus
28	chr1:71517200-71522600	Weak transcription	Primary T cells from cord blood	blood
29	chr1:71517200-71523200	Weak transcription	K562	blood
30	chr1:71517400-71522000	Weak transcription	Primary B cells from cord blood	blood
31	chr1:71517600-71523000	Weak transcription	Osteobl	bone
32	chr1:71517600-71524400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:71517600-71525000	Weak transcription	NHDF-Ad	bronchial
34	chr1:71518000-71519600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:71518000-71523400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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