Variant report

Variant	rs4150436
Chromosome Location	chr2:128041834-128041835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128041472..128042991-chr2:128051004..128053576,3	MCF-7	breast:
2	chr2:128039289..128042277-chr2:128174042..128176143,2	MCF-7	breast:
3	chr2:128014970..128016658-chr2:128040574..128042707,2	MCF-7	breast:
4	chr2:128023647..128026274-chr2:128041250..128043477,2	K562	blood:
5	chr2:128040423..128043737-chr2:128045264..128047560,3	MCF-7	breast:
6	chr2:128039935..128041904-chr2:128051632..128053435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction
ENSG00000115718	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2069894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3732209	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3817088	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4150404	0.89[ASN][1000 genomes]
rs4150406	1.00[ASN][1000 genomes]
rs4150452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150466	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4150519	1.00[ASN][1000 genomes]
rs56291216	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57347433	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58965651	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73953605	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73956504	0.82[AFR][1000 genomes]
rs73956517	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73956519	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73956522	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73956525	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73956526	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7590030	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8179521	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9282675	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
2	chr2:128023400-128050400	Strong transcription	Liver	Liver
3	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
4	chr2:128024400-128049600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr2:128024400-128049800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr2:128024400-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:128024400-128050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:128024400-128050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:128024400-128050200	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:128024400-128050400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:128024400-128050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:128024400-128050400	Strong transcription	Thymus	Thymus
13	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
14	chr2:128024600-128049200	Strong transcription	Dnd41	blood
15	chr2:128024600-128049600	Strong transcription	Primary T cells from cord blood	blood
16	chr2:128024600-128050000	Strong transcription	HepG2	liver
17	chr2:128024600-128050200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:128024600-128050200	Strong transcription	Adipose Nuclei	Adipose
19	chr2:128024800-128044200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:128024800-128050000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:128024800-128050200	Strong transcription	Brain Anterior Caudate	brain
22	chr2:128024800-128050200	Strong transcription	Brain Hippocampus Middle	brain
23	chr2:128024800-128050200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:128024800-128050200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr2:128024800-128050400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:128024800-128050400	Strong transcription	Osteobl	bone
27	chr2:128025000-128050600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:128025200-128050000	Strong transcription	Left Ventricle	heart
29	chr2:128025200-128050200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:128025800-128050000	Strong transcription	Spleen	Spleen
31	chr2:128028200-128042200	Strong transcription	NHLF	lung
32	chr2:128028400-128044400	Weak transcription	Stomach Mucosa	stomach
33	chr2:128032400-128048200	Strong transcription	Rectal Smooth Muscle	rectum
34	chr2:128032600-128042600	Strong transcription	HSMM	muscle
35	chr2:128033400-128042200	Strong transcription	Aorta	Aorta
36	chr2:128033800-128050400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:128034200-128050200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:128034200-128050200	Strong transcription	K562	blood
39	chr2:128034400-128050000	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr2:128034400-128050200	Strong transcription	HUVEC	blood vessel
41	chr2:128034800-128050400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:128036000-128048600	Strong transcription	HSMMtube	muscle
43	chr2:128036600-128050200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:128036600-128050800	Weak transcription	Right Atrium	heart
45	chr2:128036800-128050200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:128037400-128050400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:128037400-128050400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:128037400-128050600	Strong transcription	Right Ventricle	heart
49	chr2:128039200-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:128039200-128050200	Strong transcription	Brain Substantia Nigra	brain

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