Variant report

Variant	rs60332618
Chromosome Location	chr3:158455745-158455746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr3:158455081-158456658	IMR90	lung:	n/a	n/a
2	RAD21	chr3:158455736-158456171	IMR90	lung:	n/a	n/a
3	MXI1	chr3:158455683-158456812	IMR90	lung:	n/a	n/a
4	CEBPB	chr3:158455737-158456227	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158449492..158452059-chr3:158453554..158456847,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240207	TF binding region
ENSG00000240207	Chromatin interaction
ENSG00000118849	Chromatin interaction
ENSG00000118855	Chromatin interaction

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

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

rs_ID	r²[population]
rs59215924	0.95[AFR][1000 genomes]
rs73015639	1.00[AFR][1000 genomes]
rs73015640	0.91[AFR][1000 genomes]
rs73017546	0.95[AFR][1000 genomes]
rs73017555	0.91[AFR][1000 genomes]
rs73017563	0.95[AFR][1000 genomes]
rs73017566	0.95[AFR][1000 genomes]
rs73017576	0.95[AFR][1000 genomes]
rs73030863	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158449800-158483000	Weak transcription	Fetal Heart	heart
2	chr3:158450400-158460000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:158450600-158465400	Weak transcription	Left Ventricle	heart
4	chr3:158450800-158460800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:158450800-158464200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:158450800-158468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:158450800-158485400	Weak transcription	Psoas Muscle	Psoas
8	chr3:158451000-158455800	Weak transcription	Osteobl	bone
9	chr3:158451000-158457000	Weak transcription	Pancreas	Pancrea
10	chr3:158451000-158458800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:158451000-158459800	Weak transcription	Fetal Brain Male	brain
12	chr3:158451000-158459800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:158451000-158460000	Weak transcription	Fetal Intestine Large	intestine
14	chr3:158451000-158462000	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:158451000-158463400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:158451000-158463800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:158451000-158464000	Weak transcription	Colonic Mucosa	Colon
18	chr3:158451000-158464400	Weak transcription	NH-A	brain
19	chr3:158451000-158464800	Weak transcription	Gastric	stomach
20	chr3:158451000-158484200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:158451000-158485800	Weak transcription	Fetal Kidney	kidney
22	chr3:158451800-158461400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:158451800-158464800	Weak transcription	Brain Germinal Matrix	brain
24	chr3:158452200-158456400	Weak transcription	Lung	lung
25	chr3:158452200-158465600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:158452400-158456800	Weak transcription	Right Ventricle	heart
27	chr3:158453200-158458200	Weak transcription	Brain Angular Gyrus	brain
28	chr3:158453200-158458800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:158453200-158459800	Weak transcription	Ovary	ovary
30	chr3:158453200-158462000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:158453200-158464600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:158453400-158455800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:158453400-158459400	Weak transcription	Adipose Nuclei	Adipose
34	chr3:158453400-158460800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr3:158453400-158462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:158453400-158464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:158453400-158464800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:158453400-158465800	Weak transcription	Fetal Brain Female	brain
39	chr3:158453400-158467400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:158453400-158467600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:158453600-158456000	Weak transcription	Spleen	Spleen
42	chr3:158453600-158456200	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:158453600-158457400	Weak transcription	Aorta	Aorta
44	chr3:158453600-158459600	Weak transcription	Primary T cells from cord blood	blood
45	chr3:158453600-158462000	Weak transcription	Brain Anterior Caudate	brain
46	chr3:158453600-158462600	Weak transcription	Brain Substantia Nigra	brain
47	chr3:158453600-158464000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:158453600-158465400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:158453600-158486400	Weak transcription	Esophagus	oesophagus
50	chr3:158453800-158455800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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