Variant report

Variant	rs62336172
Chromosome Location	chr4:129132929-129132930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129131636..129133144-chr4:129208385..129211061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

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

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

rs_ID	r²[population]
rs12502412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12505002	0.83[AMR][1000 genomes]
rs3796500	0.81[ASN][1000 genomes]
rs4834232	0.82[AMR][1000 genomes]
rs62334582	0.82[AMR][1000 genomes]
rs62334588	0.82[AMR][1000 genomes]
rs62334591	0.83[AMR][1000 genomes]
rs62334615	0.85[AMR][1000 genomes]
rs62334617	0.85[AMR][1000 genomes]
rs62334633	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62336170	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats 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	44 gene(s)	inside rSNPs	diseases
4	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 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	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:129108200-129149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:129108400-129136000	Weak transcription	Lung	lung
4	chr4:129108600-129133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129110400-129134200	Weak transcription	Small Intestine	intestine
6	chr4:129112600-129133600	Weak transcription	Fetal Kidney	kidney
7	chr4:129113000-129141400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:129113200-129141400	Weak transcription	A549	lung
9	chr4:129115800-129133200	Weak transcription	Fetal Intestine Small	intestine
10	chr4:129119200-129134800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:129119200-129134800	Weak transcription	Spleen	Spleen
12	chr4:129119600-129135000	Strong transcription	Liver	Liver
13	chr4:129120000-129141800	Weak transcription	HMEC	breast
14	chr4:129120200-129133200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:129122400-129133000	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:129122400-129134000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:129122400-129134600	Weak transcription	Right Atrium	heart
18	chr4:129122600-129133400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:129122600-129134600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:129122600-129135800	Weak transcription	Right Ventricle	heart
21	chr4:129122800-129135000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:129122800-129135200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:129122800-129135800	Weak transcription	Fetal Lung	lung
24	chr4:129122800-129141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:129122800-129141200	Weak transcription	NHDF-Ad	bronchial
26	chr4:129122800-129141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:129122800-129141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:129122800-129149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:129123000-129133000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:129123000-129133200	Weak transcription	Fetal Stomach	stomach
31	chr4:129123000-129133200	Weak transcription	Pancreas	Pancrea
32	chr4:129123000-129134000	Weak transcription	Placenta	Placenta
33	chr4:129123000-129134200	Weak transcription	Esophagus	oesophagus
34	chr4:129123000-129134400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:129123000-129135800	Weak transcription	Gastric	stomach
36	chr4:129123000-129138400	Weak transcription	Ovary	ovary
37	chr4:129123000-129141400	Weak transcription	HUVEC	blood vessel
38	chr4:129123000-129141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:129123000-129144800	Weak transcription	Left Ventricle	heart
40	chr4:129123000-129145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:129123000-129149000	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:129123000-129149400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr4:129123600-129141200	Weak transcription	Osteobl	bone
44	chr4:129123600-129141600	Weak transcription	NH-A	brain
45	chr4:129124000-129141400	Weak transcription	HSMM	muscle
46	chr4:129124400-129137200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:129125200-129133400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:129126600-129135800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:129128200-129133400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:129128200-129133600	Weak transcription	Fetal Intestine Large	intestine

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