Variant report

Variant	rs4851269
Chromosome Location	chr2:100830348-100830349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100828123..100832534-chr2:100834410..100837969,5	K562	blood:
2	chr2:100830080..100832586-chr2:100833849..100837310,3	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10167029	0.87[ASN][1000 genomes]
rs10167279	0.88[ASN][1000 genomes]
rs10194635	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10496345	0.85[ASN][1000 genomes]
rs10865035	0.93[ASN][1000 genomes]
rs11123817	0.85[ASN][1000 genomes]
rs1122231	0.85[ASN][1000 genomes]
rs1160542	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1160543	0.85[ASN][1000 genomes]
rs1160544	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1160545	0.85[ASN][1000 genomes]
rs11676922	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11677053	0.81[ASN][1000 genomes]
rs11678979	0.81[ASN][1000 genomes]
rs11684761	0.85[ASN][1000 genomes]
rs11686372	0.85[ASN][1000 genomes]
rs11687241	0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs11689199	0.89[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11689201	0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11690335	0.85[ASN][1000 genomes]
rs11691409	0.85[ASN][1000 genomes]
rs11691869	0.81[ASN][1000 genomes]
rs11693324	0.85[ASN][1000 genomes]
rs11695383	0.85[ASN][1000 genomes]
rs12619178	0.85[ASN][1000 genomes]
rs12712073	0.88[ASN][1000 genomes]
rs12987662	0.85[ASN][1000 genomes]
rs12990462	0.85[ASN][1000 genomes]
rs12991254	0.85[ASN][1000 genomes]
rs12992090	0.85[ASN][1000 genomes]
rs13013169	0.81[ASN][1000 genomes]
rs13017207	0.83[ASN][1000 genomes]
rs13018640	0.85[ASN][1000 genomes]
rs13026283	0.83[ASN][1000 genomes]
rs13034176	0.85[ASN][1000 genomes]
rs1465800	0.85[ASN][1000 genomes]
rs1465801	0.85[ASN][1000 genomes]
rs2309757	0.81[ASN][1000 genomes]
rs2309837	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2309838	0.85[ASN][1000 genomes]
rs2871344	0.85[ASN][1000 genomes]
rs4303732	0.85[ASN][1000 genomes]
rs4583487	0.85[ASN][1000 genomes]
rs4851264	0.81[ASN][1000 genomes]
rs4851266	0.85[ASN][1000 genomes]
rs4851267	0.87[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4851268	0.85[ASN][1000 genomes]
rs4851270	0.85[ASN][1000 genomes]
rs4851271	0.85[ASN][1000 genomes]
rs6709656	0.81[ASN][1000 genomes]
rs6712515	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6722661	0.81[ASN][1000 genomes]
rs6740612	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6740838	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6750097	0.85[ASN][1000 genomes]
rs6754937	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7566527	0.81[ASN][1000 genomes]
rs7580200	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs893245	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9653442	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs999052	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription 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	4 gene(s)	inside rSNPs	diseases
3	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4851269	AFF3	cis	parietal	SCAN
rs4851269	ASTL	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100822200-100830400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100824400-100830400	Weak transcription	Right Atrium	heart
3	chr2:100825200-100832400	Weak transcription	Fetal Brain Female	brain
4	chr2:100826400-100832200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:100827800-100830400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:100827800-100832200	Enhancers	Psoas Muscle	Psoas
7	chr2:100827800-100832200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:100828800-100832400	Enhancers	Fetal Heart	heart
9	chr2:100829000-100831000	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:100829000-100831600	Enhancers	Placenta	Placenta
11	chr2:100829000-100832200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:100829000-100832400	Enhancers	Left Ventricle	heart
13	chr2:100829200-100831000	Enhancers	Liver	Liver
14	chr2:100829200-100832200	Enhancers	Aorta	Aorta
15	chr2:100829200-100832200	Enhancers	Fetal Muscle Leg	muscle
16	chr2:100829200-100832400	Enhancers	Right Ventricle	heart
17	chr2:100829200-100832800	Enhancers	Colon Smooth Muscle	Colon
18	chr2:100829400-100830400	Weak transcription	Gastric	stomach
19	chr2:100829400-100831400	Enhancers	Adipose Nuclei	Adipose
20	chr2:100829400-100831800	Enhancers	Fetal Lung	lung
21	chr2:100829600-100830800	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:100829600-100831600	Enhancers	Stomach Mucosa	stomach
23	chr2:100829800-100831400	Enhancers	Colonic Mucosa	Colon
24	chr2:100829800-100831400	Enhancers	Small Intestine	intestine
25	chr2:100829800-100831600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:100829800-100831600	Enhancers	Fetal Intestine Large	intestine
27	chr2:100829800-100831800	Enhancers	Fetal Intestine Small	intestine
28	chr2:100830000-100830400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:100830000-100830400	Bivalent Enhancer	HSMMtube	muscle
30	chr2:100830000-100831200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:100830000-100831200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:100830000-100831400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:100830000-100831400	Enhancers	Ovary	ovary
34	chr2:100830200-100830800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:100830200-100831200	Enhancers	Pancreas	Pancrea
36	chr2:100830200-100831200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:100830200-100831200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:100830200-100831200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr2:100830200-100831400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:100830200-100831400	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:100830200-100831400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:100830200-100831400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:100830200-100831400	Enhancers	Brain Anterior Caudate	brain
44	chr2:100830200-100831400	Enhancers	Lung	lung
45	chr2:100830200-100831400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:100830200-100831600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:100830200-100832000	Enhancers	HepG2	liver
48	chr2:100830200-100832400	Enhancers	Fetal Muscle Trunk	muscle
49	chr2:100830200-100832400	Enhancers	Fetal Stomach	stomach

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