Variant report

Variant	rs572623
Chromosome Location	chr1:76697904-76697905
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	chr1:76655272..76656892-chr1:76697191..76699562,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10782606	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs10873867	1.00[JPT][hapmap]
rs10873869	0.89[JPT][hapmap]
rs10873870	0.85[ASN][1000 genomes]
rs11162090	0.89[JPT][hapmap]
rs11162091	0.90[JPT][hapmap]
rs11162092	0.90[JPT][hapmap]
rs11162095	0.81[JPT][hapmap]
rs11162096	0.81[JPT][hapmap]
rs12048024	0.89[JPT][hapmap]
rs12048928	0.90[JPT][hapmap]
rs12563461	0.81[JPT][hapmap]
rs1414403	0.89[JPT][hapmap]
rs1414406	0.89[JPT][hapmap]
rs1473472	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1486931	0.89[JPT][hapmap]
rs1486933	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1486934	0.90[JPT][hapmap]
rs1486935	0.90[JPT][hapmap]
rs1591472	0.90[JPT][hapmap]
rs1601640	0.86[JPT][hapmap]
rs1999734	0.89[JPT][hapmap]
rs2065795	0.85[ASN][1000 genomes]
rs2783985	0.90[JPT][hapmap]
rs2952435	0.81[JPT][hapmap]
rs3011990	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs370016	0.88[JPT][hapmap]
rs402394	0.89[JPT][hapmap]
rs413350	0.89[JPT][hapmap]
rs450133	0.89[JPT][hapmap]
rs472536	0.89[JPT][hapmap]
rs473380	0.89[JPT][hapmap]
rs479650	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs482598	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs483441	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs490570	0.81[JPT][hapmap]
rs4949696	0.90[JPT][hapmap]
rs4949697	0.81[JPT][hapmap]
rs501426	0.89[JPT][hapmap]
rs503329	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512082	0.81[JPT][hapmap]
rs519797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523756	0.80[ASN][1000 genomes]
rs527974	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531773	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs533097	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs560520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs566665	0.81[JPT][hapmap]
rs569850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573657	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580928	1.00[JPT][hapmap]
rs638593	0.89[JPT][hapmap]
rs6671258	0.85[ASN][1000 genomes]
rs6674758	0.85[ASN][1000 genomes]
rs7414129	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1008763	chr1:76692057-76723417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1001452	chr1:76692057-76724652	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv546584	chr1:76693367-76721164	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv523526	chr1:76695356-76721164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76692400-76698200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:76692600-76698000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:76692600-76698200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:76692600-76698400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:76692800-76698000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:76693800-76698400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:76694200-76700600	Weak transcription	Fetal Stomach	stomach
8	chr1:76694600-76705000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:76695400-76699600	Weak transcription	Psoas Muscle	Psoas
10	chr1:76695600-76698000	Weak transcription	Spleen	Spleen
11	chr1:76695600-76699800	Weak transcription	Aorta	Aorta
12	chr1:76695600-76703000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:76695600-76703400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:76695600-76703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:76695600-76703800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:76695600-76703800	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:76695600-76703800	Weak transcription	Brain Substantia Nigra	brain
18	chr1:76695600-76704200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:76695600-76704200	Weak transcription	Brain Anterior Caudate	brain
20	chr1:76695600-76705000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:76695600-76708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:76695800-76703200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:76697000-76698000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:76697000-76698200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:76697000-76703600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:76697000-76703600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:76697000-76708200	Weak transcription	Fetal Lung	lung
28	chr1:76697200-76698400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:76697600-76698400	Enhancers	H9 Cell Line	embryonic stem cell

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