Variant report

Variant	rs34970030
Chromosome Location	chr2:12222531-12222532
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:12219592..12223181-chr2:12244088..12246187,3	K562	blood:
2	chr2:12222114..12225189-chr2:12227458..12230399,3	K562	blood:
3	chr2:12222240..12225810-chr2:12227711..12231664,3	K562	blood:
4	chr2:12194778..12196811-chr2:12221641..12223390,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11680545	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12993594	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13021784	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1344933	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16858244	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34253770	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6729317	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72610740	0.93[EUR][1000 genomes];0.87[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv997538	chr2:12216408-12242734	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12215400-12224200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:12217400-12223200	Weak transcription	Fetal Lung	lung
3	chr2:12217400-12249800	Weak transcription	GM12878-XiMat	blood
4	chr2:12217800-12223000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:12219600-12223600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:12220000-12223200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:12220000-12223200	Weak transcription	K562	blood
8	chr2:12220600-12223600	Enhancers	Primary T cells from cord blood	blood
9	chr2:12221000-12224800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:12221000-12234200	Weak transcription	Spleen	Spleen
11	chr2:12221200-12222600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:12221200-12223400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:12221400-12222600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:12221400-12222600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:12221400-12224400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:12221600-12224800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:12221600-12224800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:12221800-12223200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:12221800-12224800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:12221800-12225000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:12222000-12222600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:12222000-12222800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:12222000-12223200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:12222000-12223400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:12222000-12224800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:12222000-12225000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:12222200-12223400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:12222200-12223400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:12222200-12223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:12222400-12223400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:12222400-12223400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:12222400-12223400	Weak transcription	Thymus	Thymus

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