Variant report

Variant	rs1219267
Chromosome Location	chr4:143094310-143094311
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143092506..143095371-chr4:143126612..143129573,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1219276	0.94[AFR][1000 genomes]
rs1907125	1.00[YRI][hapmap]
rs1907126	0.88[AFR][1000 genomes]
rs1907129	0.88[AFR][1000 genomes]
rs1907130	0.88[AFR][1000 genomes]
rs1907138	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1907139	1.00[YRI][hapmap]
rs2130686	0.88[AFR][1000 genomes]
rs2130689	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2627800	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2645806	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2645817	0.82[AFR][1000 genomes]
rs2645819	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2645820	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2645821	0.89[AFR][1000 genomes]
rs2645822	0.88[AFR][1000 genomes]
rs3104276	1.00[AFR][1000 genomes]
rs3113518	0.94[AFR][1000 genomes]
rs336386	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs336387	1.00[AFR][1000 genomes]
rs336389	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs336390	1.00[AFR][1000 genomes]
rs336392	1.00[AFR][1000 genomes]
rs336395	0.94[AFR][1000 genomes]
rs336401	1.00[AFR][1000 genomes]
rs336403	1.00[AFR][1000 genomes]
rs336409	1.00[YRI][hapmap];0.84[AFR][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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
3	chr4:143052400-143111600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:143052600-143094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:143057800-143114400	Weak transcription	Aorta	Aorta
6	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:143061800-143102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:143069800-143112200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:143071000-143117800	Weak transcription	Psoas Muscle	Psoas
11	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:143076800-143107200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:143076800-143113200	Weak transcription	Pancreas	Pancrea
14	chr4:143078200-143103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:143081000-143128200	Weak transcription	NHDF-Ad	bronchial
16	chr4:143082000-143130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:143082400-143095000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:143082800-143115800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:143083200-143100000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:143084600-143099600	Weak transcription	Fetal Heart	heart
22	chr4:143086800-143096600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:143088600-143108200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:143088800-143096200	Weak transcription	Ovary	ovary
25	chr4:143089000-143095200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:143089000-143096400	Strong transcription	HMEC	breast
27	chr4:143089000-143108400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:143089200-143095200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:143089400-143118000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:143089800-143095800	Strong transcription	Dnd41	blood
31	chr4:143089800-143100000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:143090000-143117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:143090200-143096200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:143091400-143097200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:143091600-143095600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:143091600-143096400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:143091600-143096400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:143091600-143100600	Strong transcription	HSMMtube	muscle
39	chr4:143091600-143106200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr4:143091800-143095000	Strong transcription	HSMM	muscle
41	chr4:143092000-143103200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:143092400-143116200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:143092400-143131000	Weak transcription	Fetal Intestine Large	intestine
44	chr4:143092800-143095000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:143092800-143095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:143093000-143095000	Strong transcription	Osteobl	bone
47	chr4:143093000-143104200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:143093400-143095000	Strong transcription	Left Ventricle	heart
49	chr4:143093600-143095000	Strong transcription	Fetal Muscle Leg	muscle
50	chr4:143093800-143095200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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