Variant report

Variant	rs2037045
Chromosome Location	chr4:57778163-57778164
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57772971..57776902-chr4:57777481..57784789,10	MCF-7	breast:
2	chr4:57772988..57775343-chr4:57776220..57778579,3	MCF-7	breast:
3	chr4:57774412..57776864-chr4:57776976..57782053,6	K562	blood:
4	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction
ENSG00000084092	Chromatin interaction
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10034440	1.00[AMR][1000 genomes]
rs17087167	1.00[AMR][1000 genomes]
rs17087169	1.00[AMR][1000 genomes]
rs17087171	1.00[AMR][1000 genomes]
rs17087172	1.00[AMR][1000 genomes]
rs17087174	1.00[AMR][1000 genomes]
rs17087179	1.00[AMR][1000 genomes]
rs28415944	1.00[AMR][1000 genomes]
rs28589515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28613467	1.00[AMR][1000 genomes]
rs28627100	1.00[AMR][1000 genomes]
rs28734468	1.00[AMR][1000 genomes]
rs28740801	1.00[AMR][1000 genomes]
rs7689218	1.00[AMR][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822562	chr4:57768655-57779715	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57775800-57786200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:57776000-57778200	Enhancers	Small Intestine	intestine
3	chr4:57776200-57778200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:57776200-57778200	Enhancers	Brain Hippocampus Middle	brain
5	chr4:57776200-57778200	Enhancers	Brain Substantia Nigra	brain
6	chr4:57776200-57778200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:57776200-57781200	Enhancers	Adipose Nuclei	Adipose
8	chr4:57776400-57778200	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:57776400-57778200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr4:57776400-57780800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:57776400-57784000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:57776400-57789400	Weak transcription	Right Ventricle	heart
13	chr4:57776600-57778800	Genic enhancers	Fetal Muscle Leg	muscle
14	chr4:57776600-57778800	Enhancers	Right Atrium	heart
15	chr4:57776800-57778200	Enhancers	Esophagus	oesophagus
16	chr4:57776800-57778200	Enhancers	Ovary	ovary
17	chr4:57776800-57778400	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr4:57776800-57778800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:57776800-57779000	Enhancers	Pancreas	Pancrea
20	chr4:57776800-57779400	Enhancers	Lung	lung
21	chr4:57776800-57780400	Genic enhancers	Fetal Thymus	thymus
22	chr4:57777000-57778200	Genic enhancers	Fetal Intestine Small	intestine
23	chr4:57777000-57778200	Genic enhancers	Left Ventricle	heart
24	chr4:57777000-57778200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:57777000-57778400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
26	chr4:57777000-57778400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:57777000-57778800	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:57777000-57779400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr4:57777000-57779800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:57777000-57784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:57777000-57785400	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr4:57777000-57786400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:57777000-57795800	Weak transcription	A549	lung
34	chr4:57777000-57796600	Weak transcription	Fetal Brain Female	brain
35	chr4:57777000-57797000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:57777200-57778200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:57777200-57778200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:57777200-57778200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:57777200-57778200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
40	chr4:57777200-57778200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:57777200-57778200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:57777200-57778200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:57777200-57778200	Genic enhancers	Fetal Kidney	kidney
44	chr4:57777200-57778200	Transcr. at gene 5' and 3'	K562	blood
45	chr4:57777200-57778400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:57777200-57778400	Enhancers	Rectal Smooth Muscle	rectum
47	chr4:57777200-57778400	Genic enhancers	HUVEC	blood vessel
48	chr4:57777200-57778600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:57777200-57779200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:57777200-57780200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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