Variant report

Variant	rs4687849
Chromosome Location	chr3:119086809-119086810
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	chr3:119041134..119043282-chr3:119085242..119088136,2	MCF-7	breast:
2	chr3:119081179..119083541-chr3:119084564..119086867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10934492	0.86[YRI][hapmap]
rs12636459	0.82[YRI][hapmap]
rs16829700	1.00[CHB][hapmap]
rs16829712	1.00[CHB][hapmap]
rs2717264	1.00[AMR][1000 genomes]
rs4687842	1.00[AMR][1000 genomes]
rs4687850	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687999	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688000	1.00[CHB][hapmap]
rs6803331	1.00[EUR][1000 genomes]
rs72960637	1.00[EUR][1000 genomes]
rs72960640	1.00[EUR][1000 genomes]
rs72960642	1.00[EUR][1000 genomes]
rs73854487	1.00[EUR][1000 genomes]
rs73854488	1.00[EUR][1000 genomes]
rs7646935	1.00[EUR][1000 genomes]
rs878808	1.00[CHB][hapmap]
rs9289128	1.00[CHB][hapmap]
rs9832224	1.00[CHB][hapmap]
rs9845965	1.00[CHB][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119053200-119087200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:119053400-119087000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:119069400-119111400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:119071600-119087000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:119072000-119109200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:119072200-119087000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:119072200-119099200	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:119072200-119100600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:119072200-119101400	Weak transcription	HSMM	muscle
11	chr3:119072200-119109600	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:119072200-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:119073000-119098000	Weak transcription	Thymus	Thymus
14	chr3:119073000-119101000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr3:119076400-119087200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:119076400-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:119076400-119087800	Weak transcription	Spleen	Spleen
18	chr3:119076400-119098800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:119076400-119101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:119076400-119102000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:119076400-119109200	Weak transcription	Colonic Mucosa	Colon
22	chr3:119076400-119109200	Weak transcription	Esophagus	oesophagus
23	chr3:119076600-119087000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:119076600-119101400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:119076800-119087000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:119078800-119111400	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:119079000-119102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:119079400-119087000	Weak transcription	Ovary	ovary
29	chr3:119079400-119087200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:119079400-119087800	Weak transcription	Brain Angular Gyrus	brain
31	chr3:119079400-119109600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:119079800-119087600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:119079800-119110000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
35	chr3:119080200-119087000	Weak transcription	Fetal Lung	lung
36	chr3:119080200-119093800	Weak transcription	GM12878-XiMat	blood
37	chr3:119080800-119087200	Weak transcription	Aorta	Aorta
38	chr3:119081200-119099200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:119081400-119087000	Weak transcription	Lung	lung
41	chr3:119081400-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:119081800-119087000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
44	chr3:119083000-119087000	Weak transcription	Right Ventricle	heart
45	chr3:119084000-119088200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:119084000-119090600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:119084000-119095000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:119084200-119087400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:119084200-119089200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:119084200-119089600	Strong transcription	Left Ventricle	heart

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