Variant report

Variant	rs17356755
Chromosome Location	chr2:183582170-183582171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:183581997-183582417	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:183579792-183582529	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr2:183579385-183582385	SK-N-SH	brain:	n/a	chr2:183580693-183580708 chr2:183580695-183580710 chr2:183581567-183581576
4	POLR2A	chr2:183582114-183582998	Raji	blood:	n/a	n/a
5	SPI1	chr2:183582170-183582475	GM12878	blood:	n/a	chr2:183582356-183582363 chr2:183582355-183582364 chr2:183582352-183582365
6	MAZ	chr2:183582110-183582265	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:183530500..183533463-chr2:183581172..183582687,2	MCF-7	breast:
2	chr2:182755591..182758830-chr2:183579706..183582403,3	K562	blood:
3	chr2:183580425..183582799-chr2:183903051..183904778,2	MCF-7	breast:

Variant related genes	Relation type
DNAJC10	TF binding region
ENSG00000061676	Chromatin interaction
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6739907	0.82[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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv875482	chr2:183508696-183582170	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
5	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183579800-183582200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:183579800-183582200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr2:183579800-183582200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:183579800-183582200	Active TSS	HMEC	breast
5	chr2:183580000-183582200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:183580000-183582200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr2:183580000-183582200	Active TSS	Stomach Mucosa	stomach
8	chr2:183580000-183582200	Active TSS	NHLF	lung
9	chr2:183580000-183582400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:183580000-183582800	Active TSS	Fetal Intestine Large	intestine
11	chr2:183580200-183582200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:183580200-183582200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:183580200-183582200	Active TSS	Brain Angular Gyrus	brain
14	chr2:183580200-183582200	Active TSS	Thymus	Thymus
15	chr2:183580200-183582200	Active TSS	Hela-S3	cervix
16	chr2:183580200-183582200	Active TSS	NHDF-Ad	bronchial
17	chr2:183580200-183582400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:183580200-183582400	Active TSS	HSMM	muscle
19	chr2:183580200-183582600	Active TSS	Rectal Smooth Muscle	rectum
20	chr2:183580400-183582200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:183580400-183582200	Active TSS	K562	blood
22	chr2:183580400-183582400	Active TSS	Fetal Intestine Small	intestine
23	chr2:183580600-183582200	Active TSS	Fetal Kidney	kidney
24	chr2:183580600-183582200	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:183580600-183582400	Active TSS	GM12878-XiMat	blood
26	chr2:183581000-183582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:183581200-183582400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr2:183581200-183582400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr2:183581200-183582600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:183581200-183583400	Active TSS	Aorta	Aorta
31	chr2:183581200-183584200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr2:183581400-183582200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:183581400-183582400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr2:183581400-183582400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr2:183581400-183582400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr2:183581400-183582400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr2:183581400-183582600	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr2:183581400-183582600	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr2:183581400-183582600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:183581400-183582600	Flanking Active TSS	Dnd41	blood
41	chr2:183581400-183583000	Flanking Active TSS	HUVEC	blood vessel
42	chr2:183581600-183582400	Active TSS	Right Atrium	heart
43	chr2:183581600-183582400	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:183581600-183582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:183581600-183587400	Weak transcription	Lung	lung
46	chr2:183581600-183609600	Weak transcription	Spleen	Spleen
47	chr2:183581800-183582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:183581800-183582200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr2:183581800-183582200	Enhancers	Liver	Liver
50	chr2:183581800-183582200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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