Variant report

Variant	rs6752640
Chromosome Location	chr2:168586532-168586533
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	chr2:168584586..168586912-chr2:168590277..168592484,2	K562	blood:
2	chr2:168579362..168581960-chr2:168584319..168587254,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13427371	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73971235	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv583594	chr2:168461161-168597986	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1005875	chr2:168481626-168628276	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv536032	chr2:168481626-168628276	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2757840	chr2:168489369-168640310	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2759100	chr2:168489369-168640310	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv459940	chr2:168552363-168628177	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv583595	chr2:168552363-168628177	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168578600-168590400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168579800-168587800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:168580000-168587600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:168584800-168587800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:168585600-168586600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:168585600-168587200	Enhancers	Psoas Muscle	Psoas
7	chr2:168585600-168587800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:168585600-168590400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:168585800-168587400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:168586200-168586600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:168586200-168586800	Enhancers	Fetal Brain Male	brain
12	chr2:168586200-168587200	Enhancers	Brain Anterior Caudate	brain
13	chr2:168586200-168587200	Enhancers	Brain Substantia Nigra	brain
14	chr2:168586200-168587400	Enhancers	Brain Hippocampus Middle	brain
15	chr2:168586200-168587600	Enhancers	Brain Angular Gyrus	brain
16	chr2:168586200-168588000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:168586200-168588000	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:168586400-168586600	Enhancers	Ovary	ovary
19	chr2:168586400-168586800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:168586400-168586800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:168586400-168586800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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