Variant report

Variant	rs16830669
Chromosome Location	chr2:152906738-152906739
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152905080..152907121-chr2:153030715..153033557,2	MCF-7	breast:
2	chr2:152906254..152909084-chr2:152909398..152912160,2	K562	blood:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11901937	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902858	0.87[YRI][hapmap]
rs16830649	0.81[YRI][hapmap]
rs16830650	0.87[YRI][hapmap]
rs16830656	0.88[YRI][hapmap]
rs6721639	0.88[YRI][hapmap]
rs6745984	0.87[YRI][hapmap]

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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers 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 target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152901200-152908400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:152901800-152908200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:152902200-152907800	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:152903800-152908200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:152904000-152908800	Weak transcription	Fetal Brain Male	brain
6	chr2:152904000-152915400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:152904200-152907800	Enhancers	GM12878-XiMat	blood
8	chr2:152905200-152908800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:152905400-152908400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:152905800-152908400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:152905800-152908400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:152906000-152907600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:152906000-152908200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:152906000-152908600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:152906200-152906800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:152906200-152906800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:152906200-152907400	Enhancers	Fetal Kidney	kidney
18	chr2:152906200-152907600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:152906400-152907000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:152906400-152907000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:152906400-152907200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:152906400-152907200	Enhancers	Lung	lung
23	chr2:152906400-152907400	Enhancers	Fetal Muscle Leg	muscle
24	chr2:152906400-152907600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:152906400-152907600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:152906400-152908400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:152906600-152907000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:152906600-152907000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:152906600-152907200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:152906600-152907200	Weak transcription	Primary B cells from cord blood	blood
31	chr2:152906600-152908600	Enhancers	Monocytes-CD14+_RO01746	blood

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