Variant report

Variant	rs977619
Chromosome Location	chr4:143280417-143280418
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	chr4:143277710..143279872-chr4:143280001..143282986,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11938760	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13132760	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1391095	0.84[ASN][1000 genomes]
rs17016027	0.84[ASN][1000 genomes]
rs2029990	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130253	0.81[ASN][1000 genomes]
rs2646094	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2646095	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71608480	0.80[EUR][1000 genomes];0.82[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143265800-143280600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr4:143268400-143283200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:143270800-143284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
5	chr4:143274400-143281400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:143274800-143285800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:143274800-143286200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:143274800-143288800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:143275200-143286000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:143275400-143285000	Weak transcription	A549	lung
11	chr4:143275400-143288000	Weak transcription	Aorta	Aorta
12	chr4:143275600-143286200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:143276200-143282600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:143276200-143285800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:143276200-143285800	Weak transcription	NHDF-Ad	bronchial
16	chr4:143276200-143289800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:143277000-143281600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:143277000-143283800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:143277000-143285000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:143277000-143286200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:143277200-143281800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:143277200-143286200	Weak transcription	Fetal Lung	lung
25	chr4:143277200-143288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:143277400-143281000	Enhancers	NHEK	skin
27	chr4:143277800-143289800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:143278200-143286200	Weak transcription	HMEC	breast
29	chr4:143278400-143283200	Weak transcription	Primary T cells from cord blood	blood
30	chr4:143278400-143284800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:143278400-143294200	Weak transcription	Stomach Mucosa	stomach
32	chr4:143278600-143280800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:143278600-143284200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:143278800-143283200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:143278800-143284600	Weak transcription	Dnd41	blood
36	chr4:143279800-143280600	Enhancers	Fetal Heart	heart
37	chr4:143279800-143282400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:143280000-143280600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:143280200-143284000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:143280200-143284800	Weak transcription	HSMM	muscle
41	chr4:143280400-143281600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:143280400-143283000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:143280400-143283400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:143280400-143286000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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