Variant report

Variant	rs4687981
Chromosome Location	chr3:118928588-118928589
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	chr3:118926942..118931120-chr3:118957602..118962247,5	MCF-7	breast:
2	chr3:118925125..118927073-chr3:118927779..118929469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121578	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10511382	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11927939	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12634868	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13081519	0.96[EUR][1000 genomes]
rs16829477	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829479	0.97[ASN][1000 genomes]
rs3796356	0.96[EUR][1000 genomes]
rs3796357	0.96[EUR][1000 genomes]
rs4370022	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687840	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4687980	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4687982	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57258193	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58939003	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61162364	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438502	1.00[EUR][1000 genomes]
rs7426444	0.96[EUR][1000 genomes]
rs9840317	0.87[EUR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118904600-118936400	Weak transcription	Gastric	stomach
2	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:118915200-118934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:118920400-118930400	Weak transcription	Fetal Kidney	kidney
5	chr3:118921400-118931200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:118922600-118929000	Weak transcription	Spleen	Spleen
7	chr3:118923000-118929000	Weak transcription	Brain Germinal Matrix	brain
8	chr3:118923600-118930800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:118923800-118931600	Enhancers	Stomach Mucosa	stomach
10	chr3:118924200-118931600	Weak transcription	NHDF-Ad	bronchial
11	chr3:118924400-118929200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:118924400-118929800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:118924400-118933200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:118924600-118929000	Weak transcription	Colonic Mucosa	Colon
16	chr3:118924600-118930000	Weak transcription	Osteobl	bone
17	chr3:118924600-118930200	Weak transcription	Fetal Lung	lung
18	chr3:118924600-118945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:118924800-118929400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:118924800-118931200	Weak transcription	Right Ventricle	heart
21	chr3:118925600-118929000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:118925600-118929000	Weak transcription	HepG2	liver
23	chr3:118925600-118929200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:118925600-118930000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr3:118925800-118929000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:118925800-118929800	Weak transcription	Lung	lung
27	chr3:118925800-118930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:118925800-118930200	Weak transcription	Esophagus	oesophagus
29	chr3:118925800-118930200	Weak transcription	Small Intestine	intestine
30	chr3:118925800-118930800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:118926000-118928800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:118926000-118929200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:118926000-118930000	Weak transcription	Primary B cells from cord blood	blood
34	chr3:118926000-118931600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:118926200-118928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:118926200-118929000	Weak transcription	Brain Substantia Nigra	brain
37	chr3:118926200-118930200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:118926200-118931800	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:118926200-118939400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:118926400-118928800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:118926400-118929000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:118926400-118931400	Weak transcription	NHLF	lung
43	chr3:118926600-118928600	Weak transcription	Right Atrium	heart
44	chr3:118926600-118929000	Weak transcription	Left Ventricle	heart
45	chr3:118926600-118929400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:118926600-118929400	Genic enhancers	A549	lung
47	chr3:118926600-118929600	Weak transcription	Fetal Heart	heart
48	chr3:118926600-118930000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:118926600-118930000	Weak transcription	Dnd41	blood
50	chr3:118926600-118930200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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