Variant report

Variant	rs7697246
Chromosome Location	chr4:10408757-10408758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10117259..10123841-chr4:10401893..10417202,19	K562	blood:
2	chr4:10201021..10203569-chr4:10408297..10410976,2	K562	blood:
3	chr4:10118696..10122262-chr4:10407294..10411909,5	K562	blood:
4	chr4:10179301..10181367-chr4:10408418..10410454,2	K562	blood:

Variant related genes	Relation type
ENSG00000223086	Chromatin interaction
ENSG00000248777	Chromatin interaction
ENSG00000071127	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10010656	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10014800	0.84[ASN][1000 genomes]
rs10023177	0.93[ASW][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs10029208	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10031806	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10489068	0.84[ASN][1000 genomes]
rs10938768	0.81[ASN][1000 genomes]
rs10939801	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs10939818	0.84[ASN][1000 genomes]
rs10939829	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11727261	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11727366	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11732092	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11931317	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11932349	0.84[ASN][1000 genomes]
rs11937220	1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[ASN][1000 genomes]
rs11943393	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11945358	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11947517	0.95[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs12501750	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1544599	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1860896	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1860904	0.84[ASN][1000 genomes]
rs1860905	0.82[ASN][1000 genomes]
rs1860907	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1964268	0.86[ASN][1000 genomes]
rs1974647	0.88[ASN][1000 genomes]
rs2007103	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2080077	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2098236	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2098237	0.85[ASN][1000 genomes]
rs2110027	0.84[ASN][1000 genomes]
rs2192084	0.86[ASN][1000 genomes]
rs2192101	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs28551768	0.82[ASN][1000 genomes]
rs2868936	0.84[ASN][1000 genomes]
rs28705061	0.86[ASN][1000 genomes]
rs4306950	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4463062	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522862	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4610325	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4697744	0.91[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[ASN][1000 genomes]
rs4697747	0.84[ASN][1000 genomes]
rs4697748	0.84[ASN][1000 genomes]
rs4697749	0.86[ASN][1000 genomes]
rs4697750	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4697751	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4697752	0.86[ASN][1000 genomes]
rs4697977	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs4697986	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4698017	0.85[ASN][1000 genomes]
rs4698018	0.85[ASN][1000 genomes]
rs4698025	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4698028	0.84[ASN][1000 genomes]
rs4698033	0.84[ASN][1000 genomes]
rs4698037	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4698041	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4698043	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4698045	0.84[LWK][hapmap]
rs4698049	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59420943	0.87[ASN][1000 genomes]
rs6447945	0.90[ASN][1000 genomes]
rs6449445	0.84[ASN][1000 genomes]
rs6449449	0.82[ASN][1000 genomes]
rs6449451	0.82[ASN][1000 genomes]
rs6449452	0.82[ASN][1000 genomes]
rs6449454	0.84[ASN][1000 genomes]
rs6810699	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs6813712	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6819959	0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs6826450	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs6839820	0.86[ASN][1000 genomes]
rs6849037	0.86[ASN][1000 genomes]
rs6849583	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6851536	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6853056	0.91[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs6854212	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs6855489	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs6856707	0.86[ASN][1000 genomes]
rs6857135	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs727995	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7441343	0.84[ASN][1000 genomes]
rs757628	0.84[ASN][1000 genomes]
rs759024	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs759027	0.84[ASN][1000 genomes]
rs759031	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7656072	0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs7661209	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7670709	0.84[ASN][1000 genomes]
rs7675945	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7677806	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7680825	0.84[ASN][1000 genomes]
rs7685241	0.84[ASN][1000 genomes]
rs7688090	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs769091	0.84[ASN][1000 genomes]
rs917827	0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs9291406	0.82[ASN][1000 genomes]
rs984723	0.85[ASN][1000 genomes]
rs9990701	0.86[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
5	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
6	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
7	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
8	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
12	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
13	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
14	nsv532706	chr4:9948018-10451450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
15	nsv878691	chr4:9966477-10418078	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
16	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
17	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
18	nsv1000177	chr4:10212245-10557776	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv537037	chr4:10212245-10557776	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv829858	chr4:10300236-10492716	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	esv2757921	chr4:10343699-10545800	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	esv2759223	chr4:10343699-10545800	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv4233	chr4:10382443-10409916	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
24	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1010991	chr4:10398306-10410179	Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
26	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7697246	HTRA3	cis	cerebellum	SCAN
rs7697246	SLC2A9	cis	Artery Tibial	GTEx
rs7697246	TADA2B	cis	cerebellum	SCAN
rs7697246	WDR1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10406000-10408800	Weak transcription	K562	blood
2	chr4:10408600-10410600	Enhancers	Fetal Heart	heart
3	chr4:10408600-10421000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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