Variant report

Variant	rs353625
Chromosome Location	chr11:35168546-35168547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35160374..35163354-chr11:35164253..35168964,4	K562	blood:
2	chr11:34938093..34939698-chr11:35166380..35168722,2	MCF-7	breast:
3	chr11:35166380..35169022-chr11:35170596..35172915,2	MCF-7	breast:
4	chr11:35154466..35164106-chr11:35164280..35169830,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110435	Chromatin interaction
ENSG00000026508	Chromatin interaction
ENSG00000255521	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2553808	0.80[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.88[ASN][1000 genomes]
rs2553809	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs353558	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs353633	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs353634	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs4756195	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs353625	CD59	cis	cerebellum	SCAN
rs353625	TCP11L1	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35160200-35170200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:35161200-35197400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr11:35162000-35169000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:35162000-35169000	Enhancers	Stomach Mucosa	stomach
5	chr11:35163200-35169800	Enhancers	Small Intestine	intestine
6	chr11:35163400-35173000	Weak transcription	Left Ventricle	heart
7	chr11:35163400-35178400	Weak transcription	Psoas Muscle	Psoas
8	chr11:35163600-35170000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:35163800-35183400	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr11:35164400-35172200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:35164600-35168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:35164800-35169200	Genic enhancers	Fetal Muscle Leg	muscle
13	chr11:35165800-35169600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:35165800-35169600	Weak transcription	Aorta	Aorta
15	chr11:35165800-35170200	Genic enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:35165800-35172800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:35165800-35172800	Weak transcription	Right Atrium	heart
18	chr11:35166000-35170000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:35166000-35170000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:35166000-35171000	Enhancers	Thymus	Thymus
21	chr11:35166000-35175000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:35166200-35170600	Enhancers	Fetal Thymus	thymus
23	chr11:35166200-35172600	Weak transcription	Placenta	Placenta
24	chr11:35166200-35173200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:35166600-35168800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:35166600-35179000	Weak transcription	HUVEC	blood vessel
27	chr11:35166800-35168600	Genic enhancers	Primary B cells from cord blood	blood
28	chr11:35166800-35168600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:35166800-35168800	Genic enhancers	Primary hematopoietic stem cells	blood
30	chr11:35166800-35168800	Genic enhancers	HSMM	muscle
31	chr11:35166800-35169000	Enhancers	Rectal Smooth Muscle	rectum
32	chr11:35166800-35169000	Genic enhancers	NH-A	brain
33	chr11:35166800-35169800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:35166800-35170000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:35166800-35171000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:35167000-35169000	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr11:35167000-35170200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:35167000-35174800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:35167200-35168600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:35167200-35168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:35167200-35169000	Enhancers	Duodenum Mucosa	Duodenum
42	chr11:35167200-35169200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:35167200-35171000	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr11:35167200-35179400	Weak transcription	Right Ventricle	heart
45	chr11:35167200-35179800	Weak transcription	Fetal Lung	lung
46	chr11:35167400-35168800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:35167400-35169000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:35167400-35170000	Genic enhancers	NHLF	lung
49	chr11:35167400-35170200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:35167400-35171400	Weak transcription	Adipose Nuclei	Adipose

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