Variant report

Variant	rs386485
Chromosome Location	chr4:87973048-87973049
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	chr4:87926523..87929308-chr4:87972685..87974681,2	MCF-7	breast:
2	chr4:87856023..87858203-chr4:87973033..87975111,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17012186	0.81[AFR][1000 genomes]
rs28396892	0.83[ASN][1000 genomes]
rs2869632	0.81[AFR][1000 genomes]
rs2904151	0.81[AFR][1000 genomes]
rs3775229	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775230	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725030	0.81[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	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87960400-87975400	Weak transcription	Brain Germinal Matrix	brain
2	chr4:87961000-87979200	Weak transcription	HSMMtube	muscle
3	chr4:87963200-87982200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:87964600-87995000	Weak transcription	Hela-S3	cervix
5	chr4:87964800-87979200	Weak transcription	A549	lung
6	chr4:87966200-87979200	Weak transcription	NH-A	brain
7	chr4:87967000-87975000	Strong transcription	Dnd41	blood
8	chr4:87967600-87975000	Weak transcription	Stomach Mucosa	stomach
9	chr4:87967800-87973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:87967800-87974600	Strong transcription	Fetal Intestine Large	intestine
11	chr4:87968600-87974400	Enhancers	Colon Smooth Muscle	Colon
12	chr4:87968600-87975400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:87968600-87979000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:87968800-87973200	Weak transcription	Lung	lung
15	chr4:87968800-87973800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:87968800-87973800	Weak transcription	Small Intestine	intestine
17	chr4:87968800-87975000	Weak transcription	Gastric	stomach
18	chr4:87968800-87975400	Weak transcription	Spleen	Spleen
19	chr4:87968800-87975600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:87968800-87975800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:87968800-87975800	Weak transcription	NHEK	skin
22	chr4:87968800-87975800	Weak transcription	NHLF	lung
23	chr4:87968800-87976200	Weak transcription	NHDF-Ad	bronchial
24	chr4:87968800-87977600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:87968800-87978800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:87968800-87979000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:87968800-87979200	Weak transcription	HMEC	breast
28	chr4:87968800-87979200	Weak transcription	HSMM	muscle
29	chr4:87968800-87979400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:87968800-87979400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:87968800-87980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:87968800-87982000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:87968800-87982200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:87968800-87983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:87968800-87995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:87969000-87974200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:87969000-87975000	Weak transcription	Esophagus	oesophagus
38	chr4:87969000-87976000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:87969000-87994600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:87969200-87974200	Weak transcription	Fetal Kidney	kidney
41	chr4:87969200-87974800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:87969200-87974800	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:87969400-87974200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:87969600-87974600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:87970000-87973800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:87970000-87974000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:87970000-87974800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:87970000-87976000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:87970200-87973200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:87970200-87974800	Weak transcription	Fetal Lung	lung

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