Variant report

Variant	rs72941171
Chromosome Location	chr4:143277151-143277152
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143276856..143278860-chr4:143299385..143301357,2	MCF-7	breast:
2	chr4:143272607..143274373-chr4:143277065..143279303,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10519644	0.85[AFR][1000 genomes]
rs12502921	0.84[AFR][1000 genomes]
rs60684776	0.87[AFR][1000 genomes]
rs62328325	1.00[AMR][1000 genomes]
rs68057722	0.87[AFR][1000 genomes]
rs72941132	1.00[AMR][1000 genomes]
rs72941148	0.94[AFR][1000 genomes]
rs72941185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs931421	0.87[AFR][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:51 , 50 per page) page: 1 2

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	chr4:143269400-143278600	Enhancers	Fetal Heart	heart
4	chr4:143270800-143284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr4:143271000-143277200	Enhancers	Fetal Lung	lung
6	chr4:143272400-143278200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:143272400-143279800	Weak transcription	Right Ventricle	heart
8	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
9	chr4:143273800-143278600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:143274000-143278400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr4:143274000-143278800	Enhancers	Dnd41	blood
12	chr4:143274400-143278600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr4:143274400-143281400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:143274600-143277600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:143274800-143285800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:143274800-143286200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:143274800-143288800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:143275200-143277800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr4:143275200-143286000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:143275400-143285000	Weak transcription	A549	lung
21	chr4:143275400-143288000	Weak transcription	Aorta	Aorta
22	chr4:143275600-143286200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:143276200-143277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:143276200-143277600	Weak transcription	HMEC	breast
25	chr4:143276200-143278200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:143276200-143282600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:143276200-143285800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:143276200-143285800	Weak transcription	NHDF-Ad	bronchial
29	chr4:143276200-143289800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:143276400-143277400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:143276400-143277400	Weak transcription	NHEK	skin
32	chr4:143276400-143277600	Weak transcription	Stomach Mucosa	stomach
33	chr4:143276600-143277200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:143276600-143277200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:143276600-143277400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:143276600-143279800	Weak transcription	Small Intestine	intestine
37	chr4:143276800-143277400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr4:143276800-143278000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:143276800-143278200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:143276800-143279800	Weak transcription	HSMM	muscle
41	chr4:143277000-143277200	Enhancers	NH-A	brain
42	chr4:143277000-143277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:143277000-143277800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:143277000-143278400	Enhancers	Primary T cells from cord blood	blood
45	chr4:143277000-143280000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:143277000-143281600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:143277000-143283800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:143277000-143285000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:143277000-143286200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells	blood

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