Variant report

Variant	rs1994555
Chromosome Location	chr4:143268885-143268886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143266134..143268951-chr4:143395227..143397611,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2627802	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2646088	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882032	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:143256200-143269200	Weak transcription	HSMMtube	muscle
3	chr4:143256800-143269800	Weak transcription	NHDF-Ad	bronchial
4	chr4:143257600-143272000	Weak transcription	Right Ventricle	heart
5	chr4:143258000-143269200	Weak transcription	Left Ventricle	heart
6	chr4:143258000-143274800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:143258200-143274000	Weak transcription	Dnd41	blood
8	chr4:143260200-143269200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:143260200-143272000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:143262000-143269200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:143262000-143269200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:143262800-143271600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:143263000-143271600	Weak transcription	HSMM	muscle
14	chr4:143264000-143275400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr4:143264600-143274400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:143265800-143270200	Enhancers	HMEC	breast
17	chr4:143265800-143280600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:143266400-143269000	Enhancers	Fetal Heart	heart
19	chr4:143266800-143273000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:143267000-143270600	Enhancers	Fetal Lung	lung
21	chr4:143267000-143270800	Enhancers	Fetal Intestine Large	intestine
22	chr4:143267200-143272000	Weak transcription	Small Intestine	intestine
23	chr4:143267200-143273200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:143267400-143270200	Enhancers	Fetal Intestine Small	intestine
25	chr4:143267400-143272000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:143268000-143269000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:143268000-143270000	Enhancers	NHEK	skin
28	chr4:143268000-143270200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:143268000-143271400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:143268200-143269000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:143268200-143269200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:143268200-143269200	Weak transcription	Stomach Mucosa	stomach
33	chr4:143268200-143270200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:143268400-143270400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:143268400-143270400	Enhancers	A549	lung
36	chr4:143268400-143283200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr4:143268600-143269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:143268600-143269600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:143268600-143272000	Weak transcription	Primary T cells from cord blood	blood
40	chr4:143268600-143273800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:143268600-143274000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr4:143268600-143274000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:143268800-143269200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:143268800-143269800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:143268800-143271200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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