Variant report

Variant	rs12613919
Chromosome Location	chr2:168613589-168613590
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	chr2:168608803..168611110-chr2:168612210..168614300,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35366312	0.82[ASN][1000 genomes]
rs73971246	1.00[ASN][1000 genomes]
rs73971255	0.96[ASN][1000 genomes]
rs73971275	0.96[ASN][1000 genomes]
rs7570461	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]

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	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	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
4	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
5	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
6	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
7	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
8	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168610400-168614400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:168610400-168627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:168610400-168629000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:168612200-168614200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:168612200-168615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:168612600-168613800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:168612600-168614000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:168612600-168614600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:168612600-168615400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:168612600-168615600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:168612600-168615800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:168612600-168616200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:168612800-168613600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:168612800-168613600	Enhancers	Fetal Heart	heart
15	chr2:168612800-168613800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:168612800-168614000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:168612800-168614000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:168612800-168614000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:168613000-168613800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:168613200-168613600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:168613200-168613800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:168613200-168614200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:168613400-168613600	Enhancers	NH-A	brain
24	chr2:168613400-168615200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:168613400-168615400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:168613400-168621600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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