Variant report

Variant	rs1343812
Chromosome Location	chr4:143121546-143121547
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	chr4:143117327..143119027-chr4:143120300..143122539,2	MCF-7	breast:
2	chr4:143120582..143123051-chr4:143127171..143130077,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13109869	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs13120882	0.88[JPT][hapmap]
rs1907120	0.84[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1907134	0.88[JPT][hapmap]
rs1907137	0.83[JPT][hapmap]
rs1907141	0.90[ASN][1000 genomes]
rs1994216	0.91[ASN][1000 genomes]
rs1994217	0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2130687	0.84[JPT][hapmap]
rs2247587	0.87[JPT][hapmap]
rs2322703	0.89[JPT][hapmap]
rs2627798	0.84[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2627801	0.88[JPT][hapmap]
rs2627804	0.82[ASN][1000 genomes]
rs2627813	0.88[JPT][hapmap]
rs2627823	0.91[ASN][1000 genomes]
rs2627833	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2636682	0.84[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2636686	0.88[JPT][hapmap]
rs2645815	0.82[CHB][hapmap]
rs3102445	0.91[ASN][1000 genomes]
rs3102447	0.91[ASN][1000 genomes]
rs3113522	0.82[JPT][hapmap]

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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:143081000-143128200	Weak transcription	NHDF-Ad	bronchial
5	chr4:143082000-143130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:143092400-143131000	Weak transcription	Fetal Intestine Large	intestine
8	chr4:143095000-143128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:143095000-143128200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
11	chr4:143102400-143125600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:143102400-143128000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:143112600-143137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:143114000-143128000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:143114400-143127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:143114400-143127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:143114400-143128000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:143114600-143128000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:143114600-143128400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:143114600-143128400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:143114600-143150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:143114800-143128000	Weak transcription	NHEK	skin
23	chr4:143115400-143126400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:143116400-143122200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:143116800-143122800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:143116800-143141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:143117400-143124200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:143117600-143123600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:143117600-143123600	Weak transcription	Primary T cells from cord blood	blood
30	chr4:143117800-143122800	Weak transcription	HMEC	breast
31	chr4:143117800-143123600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:143118000-143126800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:143118000-143128400	Weak transcription	HSMMtube	muscle
34	chr4:143118600-143123000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:143118600-143123600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:143118600-143123600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:143118800-143127800	Weak transcription	HSMM	muscle
38	chr4:143119600-143125400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:143120600-143130000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:143121000-143127200	Weak transcription	Dnd41	blood
41	chr4:143121200-143122200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:143121200-143123800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:143121200-143127400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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