Variant report

Variant	rs781661
Chromosome Location	chr4:57780307-57780308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57772971..57776902-chr4:57777481..57784789,10	MCF-7	breast:
2	chr4:57778640..57781071-chr4:57785641..57787696,2	K562	blood:
3	chr4:57774412..57776864-chr4:57776976..57782053,6	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10020462	0.86[AMR][1000 genomes]
rs1002285	0.94[ASN][1000 genomes]
rs13111442	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13121027	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17087265	0.85[ASN][1000 genomes]
rs1713985	0.94[ASN][1000 genomes]
rs2458552	0.85[AFR][1000 genomes]
rs28625367	0.84[AFR][1000 genomes]
rs3806746	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61598699	0.81[ASN][1000 genomes]
rs6554392	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6554400	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6835138	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6838975	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9996538	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57775800-57786200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:57776200-57781200	Enhancers	Adipose Nuclei	Adipose
3	chr4:57776400-57780800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:57776400-57784000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr4:57776400-57789400	Weak transcription	Right Ventricle	heart
6	chr4:57776800-57780400	Genic enhancers	Fetal Thymus	thymus
7	chr4:57777000-57784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:57777000-57785400	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr4:57777000-57786400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:57777000-57795800	Weak transcription	A549	lung
11	chr4:57777000-57796600	Weak transcription	Fetal Brain Female	brain
12	chr4:57777000-57797000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:57777200-57793400	Weak transcription	HMEC	breast
14	chr4:57777200-57796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:57777200-57796600	Weak transcription	Aorta	Aorta
16	chr4:57777200-57796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:57777200-57797200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:57777400-57780800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:57777400-57784600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:57777400-57786200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:57777600-57780400	Genic enhancers	Thymus	Thymus
22	chr4:57777600-57780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:57777600-57782000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:57777600-57783200	Weak transcription	Osteobl	bone
25	chr4:57777600-57784000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr4:57777600-57785800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:57777600-57796000	Weak transcription	Brain Anterior Caudate	brain
28	chr4:57777600-57796000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:57777600-57796600	Weak transcription	Colonic Mucosa	Colon
30	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
31	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr4:57778000-57781000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:57778000-57781800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:57778000-57781800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:57778000-57785600	Strong transcription	Fetal Stomach	stomach
37	chr4:57778000-57791800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:57778000-57796000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:57778000-57796000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:57778000-57796600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:57778000-57797000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:57778200-57780600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:57778200-57781800	Weak transcription	Hela-S3	cervix
44	chr4:57778200-57783000	Weak transcription	Brain Substantia Nigra	brain
45	chr4:57778200-57783000	Weak transcription	K562	blood
46	chr4:57778200-57784000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:57778200-57784000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:57778200-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:57778200-57785600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:57778200-57796200	Weak transcription	Brain Hippocampus Middle	brain

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