Variant report

Variant	rs12621525
Chromosome Location	chr2:152195235-152195236
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	chr2:152116855..152118703-chr2:152192854..152195590,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMI-1	chr2:152194344-152195913	ENSG00000248650
2	lnc-NMI-1	chr2:152194342-152195913	NR_110248

Variant related genes	Relation type
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11885914	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12615036	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12619870	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13034932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396427	0.96[ASN][1000 genomes]
rs16829823	1.00[CHB][hapmap]
rs16829833	0.84[CHB][hapmap]
rs16829835	0.86[CHB][hapmap]
rs289831	0.88[CHB][hapmap]
rs289838	0.88[CHB][hapmap]
rs289890	1.00[CHB][hapmap]
rs289891	1.00[CHB][hapmap]
rs289917	1.00[CHB][hapmap]
rs289925	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs446791	0.88[CHB][hapmap]
rs4665120	1.00[CHB][hapmap]
rs59530690	0.88[AFR][1000 genomes]
rs60474976	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152191200-152195400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:152191200-152195600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:152191400-152195600	Weak transcription	NH-A	brain
4	chr2:152191400-152195600	Weak transcription	NHLF	lung
5	chr2:152191400-152195600	Weak transcription	Osteobl	bone
6	chr2:152192200-152196000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:152193200-152196000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:152193200-152196000	Enhancers	HUVEC	blood vessel
9	chr2:152193400-152196000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:152194000-152195600	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:152194000-152196200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:152194200-152195600	Weak transcription	Adipose Nuclei	Adipose
13	chr2:152194200-152195800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:152194400-152195600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:152194600-152195600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:152194600-152196800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:152194800-152196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:152194800-152196800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:152195000-152195400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:152195000-152195600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:152195000-152195800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:152195000-152195800	Weak transcription	NHDF-Ad	bronchial
23	chr2:152195000-152196600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:152195200-152195400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:152195200-152195400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:152195200-152195400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:152195200-152195800	Weak transcription	Primary monocytes fromperipheralblood	blood

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