Variant report

Variant	rs55750762
Chromosome Location	chr3:141128524-141128525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141122791..141124629-chr3:141128045..141130082,2	K562	blood:
2	chr3:141127732..141130108-chr3:141132601..141134481,2	MCF-7	breast:
3	chr3:141124961..141126673-chr3:141128452..141131076,2	K562	blood:
4	chr3:141125595..141129103-chr3:141133581..141136725,3	K562	blood:
5	chr3:141126713..141129325-chr3:141173577..141175312,2	MCF-7	breast:
6	chr3:141126444..141129026-chr3:141149280..141150902,2	K562	blood:
7	chr3:141103656..141105219-chr3:141126997..141129386,2	K562	blood:
8	chr3:141030275..141032040-chr3:141128069..141130455,2	K562	blood:
9	chr3:141085385..141089817-chr3:141128434..141134875,8	K562	blood:
10	chr3:141085740..141088451-chr3:141128434..141131392,3	K562	blood:
11	chr3:141128423..141130797-chr3:141173455..141176523,3	MCF-7	breast:
12	chr3:141119734..141124291-chr3:141125562..141133374,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1344673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16851397	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55715288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56243018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6763780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73872717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73872719	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141122000-141128600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:141122000-141129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:141122000-141130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:141122000-141131800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:141122200-141128800	Weak transcription	Fetal Thymus	thymus
6	chr3:141122200-141129400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:141122600-141130400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:141122600-141130400	Genic enhancers	NH-A	brain
9	chr3:141122800-141129400	Enhancers	Fetal Heart	heart
10	chr3:141123200-141129200	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr3:141123200-141130400	Genic enhancers	Osteobl	bone
12	chr3:141123200-141130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:141123200-141130600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:141123600-141128600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr3:141123800-141128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:141123800-141128800	Weak transcription	Esophagus	oesophagus
17	chr3:141123800-141128800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:141123800-141129200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:141123800-141129200	Weak transcription	Fetal Brain Female	brain
20	chr3:141123800-141129400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:141123800-141130200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:141123800-141131400	Weak transcription	Thymus	Thymus
23	chr3:141124000-141129400	Weak transcription	Primary T cells from cord blood	blood
24	chr3:141124000-141131000	Weak transcription	Primary B cells from cord blood	blood
25	chr3:141124200-141128600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:141124400-141129200	Genic enhancers	NHLF	lung
27	chr3:141124600-141128600	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr3:141124600-141129200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:141124800-141129000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:141124800-141130000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:141125000-141131000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:141125200-141129600	Genic enhancers	NHDF-Ad	bronchial
33	chr3:141125400-141128800	Weak transcription	Colonic Mucosa	Colon
34	chr3:141125400-141131200	Weak transcription	Brain Germinal Matrix	brain
35	chr3:141125800-141129000	Weak transcription	Fetal Kidney	kidney
36	chr3:141125800-141130000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:141126000-141130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:141126000-141130400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:141126200-141128600	Weak transcription	HMEC	breast
40	chr3:141126200-141128800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr3:141126600-141128600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:141126600-141128800	Strong transcription	HSMM	muscle
43	chr3:141126600-141130600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr3:141126600-141130600	Enhancers	Right Ventricle	heart
45	chr3:141126600-141131800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr3:141126800-141128800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:141126800-141128800	Weak transcription	Ovary	ovary
48	chr3:141126800-141130200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:141126800-141132000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:141126800-141138000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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