Variant report

Variant	rs802578
Chromosome Location	chr7:145932676-145932677
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11765641	0.80[CHB][hapmap]
rs11767161	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs11768658	0.80[CHB][hapmap]
rs12531203	0.81[CHB][hapmap]
rs1260124	0.82[JPT][hapmap]
rs1260126	0.80[CHB][hapmap]
rs12668863	0.81[CEU][hapmap]
rs1526075	0.86[JPT][hapmap]
rs17170000	0.81[CHB][hapmap]
rs17579058	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2372462	0.80[CHB][hapmap]
rs2462603	0.90[JPT][hapmap]
rs2692359	0.80[CHB][hapmap]
rs2693297	0.80[CHB][hapmap]
rs4612252	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7778662	0.82[JPT][hapmap]
rs7807672	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs802543	0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs802547	0.81[YRI][hapmap]
rs802548	0.81[YRI][hapmap]
rs802550	0.81[YRI][hapmap]
rs802551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802555	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs802579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802580	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1020950	chr7:145683419-146264304	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv981604	chr7:145773003-145935052	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv889386	chr7:145845418-145935428	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1030541	chr7:145883107-146022564	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv889387	chr7:145903862-146239545	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv5992	chr7:145922744-145967420	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv608928	chr7:145928429-145952946	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145912600-145945200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:145918800-145942600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:145922800-145943600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:145925400-145935200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:145925600-145932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:145931800-145932800	Enhancers	Brain Cingulate Gyrus	brain
7	chr7:145931800-145935000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:145931800-145935600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:145931800-145936600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:145931800-145937200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:145931800-145937400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:145932000-145932800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:145932000-145933000	Enhancers	Fetal Brain Female	brain
14	chr7:145932000-145933200	Enhancers	Fetal Brain Male	brain
15	chr7:145932000-145936800	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr7:145932000-145937200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr7:145932000-145937200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:145932400-145936400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:145932600-145933000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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