Variant report

Variant	rs17397603
Chromosome Location	chr2:33353221-33353222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33352861..33355600-chr2:33385791..33387865,2	MCF-7	breast:
2	chr2:33346676..33349370-chr2:33351753..33353323,2	MCF-7	breast:
3	chr2:33347601..33349574-chr2:33351512..33354132,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1000951	1.00[CHB][hapmap]
rs1028598	1.00[CHB][hapmap]
rs10490450	1.00[CHB][hapmap]
rs11124308	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs11685178	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13417287	1.00[CHB][hapmap]
rs1545552	1.00[CHB][hapmap]
rs17396766	1.00[CHB][hapmap]
rs17396814	1.00[CHB][hapmap]
rs17397149	1.00[CHB][hapmap]
rs17397310	1.00[CHB][hapmap]
rs17397526	0.86[GIH][hapmap]
rs2123917	1.00[CHB][hapmap]
rs218211	1.00[CHB][hapmap]
rs218213	1.00[CHB][hapmap]
rs218214	1.00[CHB][hapmap]
rs218215	1.00[CHB][hapmap]
rs219082	1.00[CHB][hapmap]
rs219208	1.00[CHB][hapmap]
rs6714546	1.00[CHB][hapmap]
rs6714901	1.00[CHB][hapmap]
rs6723744	1.00[CHB][hapmap]
rs6751782	1.00[CHB][hapmap]
rs6758871	1.00[CHB][hapmap]
rs7594155	1.00[CHB][hapmap]
rs9678317	1.00[CHB][hapmap]
rs9678351	1.00[CHB][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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17397603	STRN	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33333800-33355200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:33336600-33358400	Weak transcription	HUVEC	blood vessel
3	chr2:33336800-33353400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:33336800-33358200	Weak transcription	Liver	Liver
5	chr2:33342200-33355000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:33344000-33357600	Weak transcription	Left Ventricle	heart
7	chr2:33346800-33358400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:33347400-33358000	Weak transcription	Ovary	ovary
9	chr2:33348600-33354800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:33348800-33356200	Weak transcription	HSMM	muscle
11	chr2:33351000-33353600	Enhancers	NHDF-Ad	bronchial
12	chr2:33351800-33353400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:33352200-33358400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:33352400-33353600	Enhancers	HSMMtube	muscle
15	chr2:33352800-33353600	Enhancers	Right Ventricle	heart
16	chr2:33352800-33354200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:33352800-33354600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:33352800-33355600	Weak transcription	NH-A	brain
19	chr2:33352800-33356000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:33353000-33355000	Weak transcription	Aorta	Aorta
21	chr2:33353000-33355200	Weak transcription	HMEC	breast
22	chr2:33353000-33355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:33353000-33355600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:33353000-33355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:33353000-33355800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:33353000-33355800	Weak transcription	NHLF	lung
27	chr2:33353200-33353400	Genic enhancers	Fetal Heart	heart
28	chr2:33353200-33354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:33353200-33354400	Weak transcription	Osteobl	bone
30	chr2:33353200-33354800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:33353200-33354800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:33353200-33355600	Weak transcription	NHEK	skin

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