Variant report

Variant	rs17019724
Chromosome Location	chr2:37011787-37011788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37011366..37014092-chr2:37310068..37313025,2	K562	blood:
2	chr2:37008165..37009704-chr2:37010243..37012241,2	MCF-7	breast:
3	chr2:37005478..37008643-chr2:37010810..37013126,3	MCF-7	breast:
4	chr2:37006258..37010448-chr2:37010681..37014372,3	K562	blood:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction
ENSG00000152133	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11884536	1.00[EUR][1000 genomes]
rs11887788	1.00[EUR][1000 genomes]
rs11888961	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11891319	1.00[YRI][hapmap]
rs11897052	1.00[EUR][1000 genomes]
rs11899290	1.00[EUR][1000 genomes]
rs11899319	1.00[EUR][1000 genomes]
rs11904358	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11904545	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019725	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019730	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2041829	1.00[EUR][1000 genomes]
rs2110883	1.00[EUR][1000 genomes]
rs2160332	1.00[EUR][1000 genomes]
rs2160336	1.00[EUR][1000 genomes]
rs4670628	1.00[EUR][1000 genomes]
rs6706949	1.00[EUR][1000 genomes]
rs6706964	1.00[EUR][1000 genomes]
rs6758960	1.00[EUR][1000 genomes]
rs6758975	1.00[EUR][1000 genomes]
rs6759999	1.00[EUR][1000 genomes]
rs73927029	1.00[EUR][1000 genomes]
rs73927067	1.00[EUR][1000 genomes]
rs73927068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927069	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927072	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7424163	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1821275	chr2:36991736-37018278	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:37006000-37014600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:37007600-37012600	Weak transcription	Ovary	ovary
3	chr2:37007800-37012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:37007800-37012200	Weak transcription	Liver	Liver
5	chr2:37007800-37012200	Weak transcription	Stomach Mucosa	stomach
6	chr2:37008200-37012200	Weak transcription	Fetal Heart	heart
7	chr2:37009600-37011800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:37009800-37012400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:37009800-37016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:37010000-37012600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:37010000-37014000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:37010000-37016000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:37010000-37021600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:37010200-37011800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:37010400-37012200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:37010800-37012200	Weak transcription	Fetal Stomach	stomach
17	chr2:37010800-37012600	Weak transcription	Right Atrium	heart
18	chr2:37011200-37012400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:37011400-37012000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:37011400-37012000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:37011400-37012000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:37011400-37012800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:37011400-37012800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:37011400-37013000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:37011400-37013200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:37011600-37013000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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