Variant report

Variant	rs180499
Chromosome Location	chr1:94134343-94134344
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94133319..94135815-chr1:94145818..94148739,4	MCF-7	breast:
2	chr1:94117141..94121029-chr1:94132853..94136106,3	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs171030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1772780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs183539	1.00[AMR][1000 genomes]
rs236264	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236265	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs236269	1.00[AMR][1000 genomes]
rs236272	1.00[AMR][1000 genomes]
rs236276	1.00[AMR][1000 genomes]
rs236279	1.00[AMR][1000 genomes]
rs236282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236290	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236294	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs236297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236298	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236314	1.00[AMR][1000 genomes]
rs236324	1.00[AMR][1000 genomes]
rs236325	1.00[AMR][1000 genomes]
rs236337	1.00[AMR][1000 genomes]
rs236338	1.00[AMR][1000 genomes]
rs236340	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
2	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:94123200-94135800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:94126200-94134600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:94127400-94143800	Genic enhancers	HMEC	breast
6	chr1:94127400-94144000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:94128800-94137800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:94129000-94137000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:94129200-94144800	Weak transcription	GM12878-XiMat	blood
10	chr1:94129400-94137600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:94129800-94135000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:94130600-94134400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:94130800-94134600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:94130800-94134800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:94130800-94141000	Genic enhancers	HSMM	muscle
16	chr1:94131000-94134600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:94131000-94138000	Weak transcription	Fetal Brain Male	brain
18	chr1:94131200-94134600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:94131200-94134600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:94131200-94134600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:94131200-94134800	Genic enhancers	HUVEC	blood vessel
22	chr1:94131200-94136200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:94131200-94136200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:94131200-94144000	Genic enhancers	Placenta	Placenta
25	chr1:94131400-94135800	Weak transcription	Aorta	Aorta
26	chr1:94131400-94136400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:94131400-94137000	Genic enhancers	A549	lung
28	chr1:94131400-94140600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:94131600-94134600	Weak transcription	Brain Angular Gyrus	brain
30	chr1:94131600-94136200	Weak transcription	Fetal Lung	lung
31	chr1:94131600-94143800	Genic enhancers	NHEK	skin
32	chr1:94131800-94140400	Genic enhancers	NHDF-Ad	bronchial
33	chr1:94132000-94135000	Genic enhancers	NH-A	brain
34	chr1:94132400-94135000	Weak transcription	Fetal Heart	heart
35	chr1:94132400-94139600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:94132600-94134600	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:94132600-94135000	Weak transcription	Gastric	stomach
38	chr1:94132600-94135200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:94132600-94135800	Weak transcription	K562	blood
40	chr1:94132800-94134800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:94132800-94134800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:94132800-94134800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:94132800-94135800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:94132800-94137000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:94132800-94137800	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr1:94132800-94137800	Weak transcription	Pancreas	Pancrea
47	chr1:94132800-94138000	Weak transcription	Fetal Kidney	kidney
48	chr1:94132800-94138600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:94132800-94141000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:94132800-94141800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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