Variant report

Variant	rs1425521
Chromosome Location	chr4:143480525-143480526
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	chr1:238698799..238701198-chr4:143478003..143480766,2	MCF-7	breast:
2	chr4:143467061..143469661-chr4:143478956..143481210,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10004909	1.00[ASN][1000 genomes]
rs11728236	1.00[CHB][hapmap]
rs17715707	1.00[CHB][hapmap]
rs3775712	1.00[CHB][hapmap]
rs3775716	1.00[CHB][hapmap]
rs3775718	1.00[CHB][hapmap]
rs3775720	1.00[CHB][hapmap]
rs6537111	1.00[ASN][1000 genomes]
rs6537112	1.00[AMR][1000 genomes]
rs6820232	1.00[CHB][hapmap]
rs6820463	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	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	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:143471200-143481800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:143471400-143481800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:143472400-143481200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:143472600-143486800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:143475600-143488000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:143477800-143484400	Weak transcription	HMEC	breast
7	chr4:143477800-143487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:143478000-143486600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:143478000-143486800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:143478200-143486000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:143478400-143482000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:143478800-143481400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:143478800-143482200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr4:143478800-143483600	Weak transcription	Fetal Thymus	thymus
15	chr4:143478800-143488000	Weak transcription	Fetal Intestine Large	intestine
16	chr4:143479200-143481200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:143479200-143487600	Weak transcription	Fetal Intestine Small	intestine
18	chr4:143479200-143488400	Weak transcription	Pancreas	Pancrea
19	chr4:143479400-143481200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:143479800-143482000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:143480000-143480600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:143480000-143480600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr4:143480000-143480600	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:143480000-143481200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr4:143480000-143482200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:143480200-143480600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:143480200-143480600	Enhancers	Colon Smooth Muscle	Colon
28	chr4:143480200-143480600	Flanking Active TSS	Fetal Heart	heart
29	chr4:143480200-143480600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:143480200-143481000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:143480200-143481600	Enhancers	Fetal Lung	lung
32	chr4:143480200-143485000	Weak transcription	HSMM	muscle
33	chr4:143480200-143487000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:143480400-143480600	Enhancers	HSMMtube	muscle
35	chr4:143480400-143481000	Weak transcription	Aorta	Aorta
36	chr4:143480400-143481200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:143480400-143481200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:143480400-143481200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:143480400-143481200	Weak transcription	NHLF	lung
40	chr4:143480400-143481400	Weak transcription	Osteobl	bone
41	chr4:143480400-143482000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:143480400-143483400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:143480400-143484800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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