Variant report

Variant	rs7611523
Chromosome Location	chr3:138552296-138552297
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138551363..138553278-chr3:138585364..138587238,2	K562	blood:
2	chr3:138541276..138545209-chr3:138550830..138554565,5	MCF-7	breast:
3	chr3:138552259..138555153-chr3:138660631..138662853,2	K562	blood:
4	chr3:138312690..138314858-chr3:138552284..138553853,2	K562	blood:
5	chr3:138552263..138555163-chr3:138665790..138667540,3	K562	blood:

Variant related genes	Relation type
ENSG00000206262	Chromatin interaction
ENSG00000114107	Chromatin interaction
ENSG00000244578	Chromatin interaction
ENSG00000183770	Chromatin interaction
ENSG00000241429	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56382670	1.00[AMR][1000 genomes]
rs56927625	1.00[AMR][1000 genomes]
rs57600048	1.00[AMR][1000 genomes]
rs60987624	1.00[AMR][1000 genomes]
rs61301555	1.00[AMR][1000 genomes]
rs72972909	1.00[AMR][1000 genomes]
rs72972913	1.00[AMR][1000 genomes]
rs72972920	1.00[AMR][1000 genomes]
rs72972926	1.00[AMR][1000 genomes]
rs72982685	1.00[AMR][1000 genomes]
rs7635120	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1000927	chr3:138423543-138632596	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138528800-138552600	Weak transcription	Colonic Mucosa	Colon
2	chr3:138537600-138552400	Weak transcription	Brain Angular Gyrus	brain
3	chr3:138537600-138552400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:138537600-138552600	Weak transcription	Ovary	ovary
5	chr3:138543200-138552400	Weak transcription	Fetal Stomach	stomach
6	chr3:138543400-138552400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:138543400-138552600	Weak transcription	HSMM	muscle
8	chr3:138543600-138552400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:138543600-138552400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:138544800-138552400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:138544800-138552400	Weak transcription	Lung	lung
12	chr3:138544800-138552600	Weak transcription	Gastric	stomach
13	chr3:138544800-138552600	Weak transcription	Spleen	Spleen
14	chr3:138545000-138552400	Weak transcription	Aorta	Aorta
15	chr3:138545200-138552400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:138545200-138552600	Weak transcription	Esophagus	oesophagus
17	chr3:138545200-138552600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:138545200-138552600	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:138549200-138552400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:138550600-138552400	Enhancers	Pancreas	Pancrea
21	chr3:138550800-138552600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:138551200-138552400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr3:138551200-138554000	Active TSS	K562	blood
24	chr3:138551400-138552400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:138551400-138554000	Active TSS	Placenta	Placenta
26	chr3:138551600-138552400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:138551600-138552800	Weak transcription	Small Intestine	intestine
28	chr3:138551600-138553000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr3:138551600-138554200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:138551600-138554400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:138551800-138552400	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:138551800-138552400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:138551800-138552400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:138551800-138554400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:138552000-138552400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:138552000-138552400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:138552000-138552400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr3:138552000-138552400	Enhancers	Adipose Nuclei	Adipose
39	chr3:138552000-138552400	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr3:138552000-138552400	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr3:138552000-138552400	Enhancers	Left Ventricle	heart
42	chr3:138552000-138552400	Enhancers	Right Ventricle	heart
43	chr3:138552000-138552600	Enhancers	Primary B cells from peripheral blood	blood
44	chr3:138552000-138552600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr3:138552000-138552600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr3:138552000-138552800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:138552000-138553000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:138552000-138553200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr3:138552000-138553200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:138552000-138554000	Active TSS	NHLF	lung

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