Variant report

Variant	rs799624
Chromosome Location	chr7:110511038-110511039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110505153..110508497-chr7:110509523..110512758,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs115826	0.83[ASW][hapmap];0.80[MEX][hapmap]
rs12536318	0.89[CEU][hapmap]
rs12705741	0.86[EUR][1000 genomes]
rs1406049	0.85[EUR][1000 genomes]
rs1859846	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2190527	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2190528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2190529	0.87[EUR][1000 genomes]
rs2396282	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs258975	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs258978	0.96[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs258979	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258982	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs258983	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs258984	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs258996	0.92[ASW][hapmap];0.80[MEX][hapmap]
rs258998	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs259000	0.81[AMR][1000 genomes]
rs259002	0.83[ASW][hapmap];0.80[MEX][hapmap]
rs259004	0.92[ASW][hapmap];0.80[MEX][hapmap];0.80[AMR][1000 genomes]
rs259006	0.92[ASW][hapmap];0.80[MEX][hapmap];0.80[AMR][1000 genomes]
rs6944312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6973561	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs740341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs764864	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs799616	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs799620	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs799623	1.00[ASW][hapmap];0.96[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];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799625	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs799626	0.86[EUR][1000 genomes]
rs799628	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs799642	0.84[EUR][1000 genomes]
rs799643	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs9656177	0.85[CEU][hapmap]
rs9886295	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016758	chr7:109834827-110549197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv539059	chr7:109834827-110549197	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv608147	chr7:110292046-110617845	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv888972	chr7:110470629-110635497	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv608152	chr7:110488367-110520903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv608153	chr7:110488367-110534002	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1019911	chr7:110505973-110570241	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv888973	chr7:110509579-110699652	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs799624	IMMP2L	cis	multi-tissue	Pritchard
rs799624	THAP5	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110506600-110511200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:110506600-110512200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:110508000-110511200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:110508800-110512800	Weak transcription	Psoas Muscle	Psoas
5	chr7:110510000-110513000	Enhancers	Fetal Thymus	thymus
6	chr7:110510200-110511600	Enhancers	Aorta	Aorta
7	chr7:110510600-110511200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:110510600-110511600	Enhancers	Dnd41	blood
9	chr7:110510600-110511800	Enhancers	Primary T cells from cord blood	blood
10	chr7:110510800-110511800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:110510800-110512600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:110510800-110512600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:110511000-110511800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:110511000-110512800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:110511000-110512800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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