Variant report

Variant	rs197599
Chromosome Location	chr1:57682192-57682193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57676953..57678996-chr1:57679992..57682329,2	K562	blood:
2	chr1:57674738..57677987-chr1:57681554..57684288,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12032549	0.85[CHB][hapmap]
rs12562392	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12562394	0.82[CHB][hapmap]
rs12562555	1.00[JPT][hapmap]
rs12562609	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12562930	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12564258	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12566131	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12566162	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12567335	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12567531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12567904	0.85[JPT][hapmap]
rs12567967	0.95[ASN][1000 genomes]
rs12568148	1.00[JPT][hapmap]
rs12568862	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12568928	0.95[ASN][1000 genomes]
rs12568979	0.95[ASN][1000 genomes]
rs12568992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12569224	0.95[ASN][1000 genomes]
rs169101	0.87[YRI][hapmap]
rs17115397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17115441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17115445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17115580	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs17115587	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17421219	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17421839	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17422039	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17455073	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17455469	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17455728	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17455840	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs197606	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs197623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs197628	0.87[YRI][hapmap]
rs61765581	0.82[ASN][1000 genomes]
rs61765582	0.81[ASN][1000 genomes]
rs61765586	0.82[ASN][1000 genomes]
rs61765589	0.82[ASN][1000 genomes]
rs61765590	0.82[ASN][1000 genomes]
rs61765591	0.98[ASN][1000 genomes]
rs61765592	0.98[ASN][1000 genomes]
rs61765593	0.95[ASN][1000 genomes]
rs61765594	0.95[ASN][1000 genomes]
rs61765595	0.95[ASN][1000 genomes]
rs61765623	0.95[ASN][1000 genomes]
rs61765624	0.86[ASN][1000 genomes]
rs6587766	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57675600-57692600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:57676000-57689800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57678600-57684600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57679200-57695000	Weak transcription	Fetal Brain Female	brain
5	chr1:57680600-57682200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:57680800-57682600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:57680800-57684000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:57680800-57684800	Enhancers	Fetal Heart	heart
9	chr1:57681200-57682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:57681200-57682200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:57681800-57684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:57681800-57684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:57681800-57690000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:57682000-57683000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:57682000-57687800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57682000-57690600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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