Variant report

Variant	rs57623299
Chromosome Location	chr4:74140599-74140600
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74128166..74131091-chr4:74138285..74142360,3	K562	blood:
2	chr4:74128155..74131339-chr4:74138850..74142160,4	MCF-7	breast:
3	chr4:74123816..74126777-chr4:74138438..74142667,6	MCF-7	breast:
4	chr4:74135514..74138009-chr4:74140211..74141739,2	K562	blood:
5	chr4:74132926..74135359-chr4:74140431..74141977,2	MCF-7	breast:
6	chr4:74122787..74125234-chr4:74138811..74141943,4	K562	blood:

Variant related genes	Relation type
ENSG00000250220	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000221639	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs66600903	0.80[ASN][1000 genomes]
rs67122812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67488203	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3350599	chr4:74122400-74142462	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74125800-74149000	Weak transcription	Ovary	ovary
2	chr4:74126000-74153400	Weak transcription	HSMMtube	muscle
3	chr4:74126200-74142800	Weak transcription	Adipose Nuclei	Adipose
4	chr4:74126200-74142800	Weak transcription	Aorta	Aorta
5	chr4:74126400-74142800	Weak transcription	Fetal Lung	lung
6	chr4:74126400-74147000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:74126600-74141000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:74126600-74142800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:74126600-74142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:74126600-74147000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:74126600-74147000	Weak transcription	Fetal Stomach	stomach
12	chr4:74126600-74149200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:74126600-74152400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:74127000-74158600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:74127200-74154800	Weak transcription	Left Ventricle	heart
16	chr4:74127400-74140600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:74127400-74154000	Weak transcription	Brain Angular Gyrus	brain
18	chr4:74129200-74142800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:74129200-74143600	Weak transcription	HSMM	muscle
20	chr4:74129800-74142800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:74135400-74141000	Weak transcription	Fetal Brain Male	brain
22	chr4:74137800-74147000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:74138800-74147200	Weak transcription	Spleen	Spleen
24	chr4:74139200-74141000	Weak transcription	Fetal Intestine Small	intestine
25	chr4:74139800-74142800	Weak transcription	Gastric	stomach
26	chr4:74140000-74141000	Enhancers	NHLF	lung
27	chr4:74140000-74141200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:74140000-74141200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:74140000-74141200	Enhancers	Osteobl	bone
30	chr4:74140000-74142000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:74140200-74140800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:74140200-74141000	Enhancers	NH-A	brain
33	chr4:74140200-74141400	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:74140200-74141400	Enhancers	HMEC	breast
35	chr4:74140200-74141600	Enhancers	HepG2	liver
36	chr4:74140400-74140800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:74140400-74140800	Enhancers	NHEK	skin
38	chr4:74140400-74141000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:74140400-74141200	Weak transcription	Fetal Intestine Large	intestine
40	chr4:74140400-74141600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:74140400-74141600	Flanking Active TSS	Liver	Liver

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