Variant report

Variant	rs7585604
Chromosome Location	chr2:152267672-152267673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152144813..152149803-chr2:152261382..152268379,11	K562	blood:
2	chr2:152262551..152270893-chr2:152273971..152280003,13	K562	blood:
3	chr2:152267122..152269845-chr2:152289424..152290955,2	K562	blood:
4	chr2:152116678..152120470-chr2:152265032..152268454,8	MCF-7	breast:
5	chr2:152116022..152119511-chr2:152263980..152267786,5	K562	blood:
6	chr2:152143136..152144934-chr2:152266709..152268489,3	K562	blood:
7	chr2:152116994..152118893-chr2:152266218..152268136,2	MCF-7	breast:
8	chr2:152144798..152147073-chr2:152265350..152268359,5	MCF-7	breast:
9	chr10:8100569..8103096-chr2:152267484..152269878,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123609	Chromatin interaction
ENSG00000080345	Chromatin interaction
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11685727	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16823297	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2444258	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2444265	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444268	0.87[AFR][1000 genomes]
rs2444273	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4414676	0.95[YRI][hapmap]
rs55940321	0.89[AMR][1000 genomes]
rs57800228	0.89[AMR][1000 genomes]
rs6730404	0.89[AMR][1000 genomes]
rs6746059	0.89[AMR][1000 genomes]
rs6760866	0.89[AMR][1000 genomes]
rs73005906	0.84[AFR][1000 genomes]
rs73005907	0.80[AFR][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	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
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152264800-152268000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:152265000-152268600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:152265400-152267800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:152265600-152268200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:152266000-152267800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:152266000-152267800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:152266000-152267800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:152266000-152267800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr2:152266000-152267800	Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:152266000-152267800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:152266000-152267800	Active TSS	Brain Angular Gyrus	brain
12	chr2:152266000-152267800	Active TSS	Brain Germinal Matrix	brain
13	chr2:152266000-152267800	Active TSS	Fetal Kidney	kidney
14	chr2:152266000-152267800	Active TSS	Fetal Stomach	stomach
15	chr2:152266000-152267800	Active TSS	Hela-S3	cervix
16	chr2:152266000-152267800	Active TSS	NHDF-Ad	bronchial
17	chr2:152266000-152268000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr2:152266000-152268000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:152266000-152268000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:152266000-152268000	Active TSS	HMEC	breast
21	chr2:152266000-152268000	Active TSS	HSMM	muscle
22	chr2:152266000-152268000	Active TSS	NHLF	lung
23	chr2:152266000-152268200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:152266000-152268200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:152266000-152268400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:152266000-152268400	Active TSS	A549	lung
27	chr2:152266000-152268400	Active TSS	GM12878-XiMat	blood
28	chr2:152266200-152267800	Active TSS	Fetal Thymus	thymus
29	chr2:152266200-152268000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:152266200-152268000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:152266200-152268200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr2:152266200-152268200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:152266200-152268200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:152266200-152268200	Active TSS	K562	blood
35	chr2:152266400-152267800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:152266400-152267800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:152266400-152267800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:152266400-152267800	Active TSS	Aorta	Aorta
39	chr2:152266400-152267800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:152266400-152267800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr2:152266400-152267800	Active TSS	NH-A	brain
42	chr2:152266400-152268000	Active TSS	Fetal Muscle Leg	muscle
43	chr2:152267000-152267800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr2:152267000-152267800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr2:152267000-152268000	Active TSS	Right Atrium	heart
46	chr2:152267200-152267800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr2:152267200-152267800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:152267200-152268000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr2:152267200-152268000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr2:152267200-152268000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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