Variant report

Variant	rs73929251
Chromosome Location	chr2:48126739-48126740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48123997..48126894-chr2:48127271..48129430,2	MCF-7	breast:
2	chr2:48124589..48127353-chr2:48131869..48134404,2	MCF-7	breast:
3	chr2:48117182..48119850-chr2:48125239..48128158,2	K562	blood:
4	chr2:48126711..48130578-chr2:48130920..48134233,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138081	Chromatin interaction
ENSG00000233230	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10495947	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17036996	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17037002	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17037018	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17037038	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2134056	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60154625	0.88[EUR][1000 genomes]
rs60866242	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6704872	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6714441	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6723441	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7572674	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7587289	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48095200-48127200	Weak transcription	Fetal Kidney	kidney
2	chr2:48095400-48129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:48098600-48129000	Weak transcription	Gastric	stomach
4	chr2:48098600-48129000	Weak transcription	Pancreas	Pancrea
5	chr2:48100600-48129200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:48108600-48129800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:48110600-48127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:48110600-48130800	Weak transcription	Fetal Thymus	thymus
9	chr2:48111000-48130800	Weak transcription	Thymus	Thymus
10	chr2:48111600-48127000	Weak transcription	Fetal Intestine Large	intestine
11	chr2:48112800-48127200	Weak transcription	Right Atrium	heart
12	chr2:48114400-48129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:48114400-48130600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:48115000-48131000	Weak transcription	Stomach Mucosa	stomach
15	chr2:48115200-48131400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:48117000-48129200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:48118000-48127000	Weak transcription	Placenta	Placenta
18	chr2:48118200-48127200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:48118200-48131000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:48118400-48127600	Enhancers	Primary T cells from cord blood	blood
21	chr2:48118600-48127000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:48119000-48127800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:48119600-48127200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:48119600-48130200	Weak transcription	HMEC	breast
25	chr2:48119800-48127000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:48120000-48126800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:48120200-48130400	Weak transcription	Psoas Muscle	Psoas
28	chr2:48120800-48130400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:48121200-48127200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:48121200-48129000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:48121400-48126800	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:48121400-48127000	Weak transcription	Ovary	ovary
33	chr2:48121400-48127000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:48121400-48127200	Weak transcription	Right Ventricle	heart
35	chr2:48121400-48130400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:48122600-48127000	Weak transcription	Liver	Liver
37	chr2:48122600-48127600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:48122600-48127600	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:48122600-48127800	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:48122600-48130000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:48122800-48130400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr2:48123400-48131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:48123600-48126800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:48123800-48127000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:48123800-48127000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:48123800-48127000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:48123800-48127000	Weak transcription	Left Ventricle	heart
48	chr2:48123800-48127200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:48123800-48129000	Weak transcription	Esophagus	oesophagus
50	chr2:48123800-48129000	Weak transcription	Lung	lung

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