Variant report

Variant	rs3827536
Chromosome Location	chr2:111920741-111920742
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:111919430..111921560-chr2:111931169..111932920,2	K562	blood:
2	chr2:111920226..111922098-chr2:111925497..111926999,2	MCF-7	breast:
3	chr2:111905324..111908046-chr2:111920728..111922506,2	K562	blood:
4	chr2:111893690..111895905-chr2:111918348..111921261,2	MCF-7	breast:
5	chr2:111877563..111879797-chr2:111919058..111921788,3	MCF-7	breast:
6	chr2:111877147..111880651-chr2:111918313..111921088,4	MCF-7	breast:
7	chr2:111905205..111908035-chr2:111918742..111922228,4	K562	blood:
8	chr2:111920278..111923982-chr2:111925821..111929846,4	K562	blood:
9	chr2:111920423..111923339-chr2:111955023..111956817,2	MCF-7	breast:
10	chr2:111915696..111917657-chr2:111917984..111921314,3	K562	blood:
11	chr2:111919342..111921003-chr2:111921900..111924455,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13396983	0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17558117	0.87[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1877331	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1980045	0.92[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2015454	0.87[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2241843	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241845	0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36018702	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848393	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4849417	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4849442	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs616084	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs616130	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs616582	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs6542334	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6738028	0.82[CEU][hapmap];0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs6746608	0.96[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6750599	0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6753785	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6758181	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676119	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7567444	0.87[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9308731	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3827536	BCL2L11	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:111904400-111920800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:111906600-111927000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:111909600-111922600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:111910000-111925200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:111910200-111922800	Weak transcription	Aorta	Aorta
7	chr2:111910400-111922400	Weak transcription	Ovary	ovary
8	chr2:111914600-111921400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:111914600-111921400	Genic enhancers	Liver	Liver
10	chr2:111915200-111925600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:111915600-111925400	Strong transcription	Dnd41	blood
12	chr2:111916000-111923600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:111916000-111925800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:111916600-111920800	Genic enhancers	Fetal Muscle Leg	muscle
15	chr2:111916600-111920800	Enhancers	Left Ventricle	heart
16	chr2:111916600-111921200	Enhancers	Right Atrium	heart
17	chr2:111916600-111921400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:111916800-111923200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:111917000-111925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:111917200-111921000	Enhancers	NH-A	brain
21	chr2:111917200-111925000	Weak transcription	Hela-S3	cervix
22	chr2:111917400-111920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:111917400-111921400	Enhancers	NHLF	lung
24	chr2:111918000-111920800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:111918000-111921000	Enhancers	Psoas Muscle	Psoas
26	chr2:111918200-111921600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:111918400-111921200	Enhancers	Brain Germinal Matrix	brain
28	chr2:111918600-111921000	Enhancers	Fetal Brain Male	brain
29	chr2:111919000-111920800	Enhancers	Fetal Muscle Trunk	muscle
30	chr2:111919000-111920800	Enhancers	Right Ventricle	heart
31	chr2:111919000-111921000	Genic enhancers	Fetal Lung	lung
32	chr2:111919000-111921000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:111919000-111922600	Weak transcription	NHEK	skin
34	chr2:111919000-111923400	Strong transcription	Primary B cells from cord blood	blood
35	chr2:111919200-111920800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:111919200-111921000	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:111919200-111921200	Enhancers	Gastric	stomach
38	chr2:111919200-111921200	Enhancers	Pancreas	Pancrea
39	chr2:111919200-111921200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:111919200-111921200	Genic enhancers	Thymus	Thymus
41	chr2:111919200-111921200	Weak transcription	A549	lung
42	chr2:111919200-111921400	Genic enhancers	Fetal Intestine Small	intestine
43	chr2:111919200-111925000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:111919200-111925400	Weak transcription	HMEC	breast
45	chr2:111919400-111921000	Enhancers	Lung	lung
46	chr2:111919400-111921800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:111919400-111922200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:111919400-111922200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:111919400-111922400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:111919400-111922400	Weak transcription	Colon Smooth Muscle	Colon

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