Variant report

Variant	rs3751
Chromosome Location	chr2:39200198-39200199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39197261..39199568-chr2:39199953..39202278,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17422817	0.84[AMR][1000 genomes]
rs2373470	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3099943	1.00[YRI][hapmap]
rs3099945	1.00[YRI][hapmap]
rs3112165	0.83[GIH][hapmap]
rs3765058	1.00[ASW][hapmap]
rs3796040	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7571052	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39188000-39202000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:39188000-39212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:39188000-39212600	Weak transcription	Gastric	stomach
4	chr2:39188000-39213000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:39188000-39222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:39188200-39201400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:39188200-39201400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:39188200-39205000	Weak transcription	Fetal Brain Male	brain
9	chr2:39188200-39210800	Weak transcription	HMEC	breast
10	chr2:39188200-39211800	Weak transcription	Fetal Lung	lung
11	chr2:39188400-39201400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:39188400-39201600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:39188400-39201600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:39188400-39212000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:39188400-39212400	Weak transcription	Fetal Brain Female	brain
16	chr2:39189200-39212000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:39192000-39207400	Weak transcription	Fetal Intestine Small	intestine
18	chr2:39193000-39201600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:39194000-39202000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:39194000-39213000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:39194400-39218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:39194600-39212000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:39194600-39212800	Weak transcription	Spleen	Spleen
24	chr2:39195200-39210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:39195400-39212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:39196600-39203600	Weak transcription	Left Ventricle	heart
27	chr2:39196600-39212600	Weak transcription	Aorta	Aorta
28	chr2:39196800-39201600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:39197000-39225800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:39197200-39211000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:39197400-39210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:39198600-39201200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:39198600-39212600	Weak transcription	HSMMtube	muscle
34	chr2:39198800-39212000	Weak transcription	Fetal Stomach	stomach
35	chr2:39199200-39211000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:39199600-39220000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:39199800-39200200	Enhancers	Ovary	ovary
38	chr2:39199800-39200400	Enhancers	Adipose Nuclei	Adipose
39	chr2:39199800-39200800	Enhancers	Fetal Heart	heart
40	chr2:39200000-39200200	Genic enhancers	Right Ventricle	heart
41	chr2:39200000-39212000	Weak transcription	Primary T cells from cord blood	blood
42	chr2:39200000-39212200	Weak transcription	Pancreas	Pancrea

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