Variant report

Variant	rs35543943
Chromosome Location	chr1:184764351-184764352
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184762166..184764513-chr1:184772880..184774455,2	K562	blood:
2	chr1:184756736..184760849-chr1:184761406..184764611,5	K562	blood:
3	chr1:184721522..184725432-chr1:184763570..184768256,4	K562	blood:
4	chr1:184761569..184763402-chr1:184763802..184766549,2	K562	blood:
5	chr1:184758252..184761328-chr1:184761790..184766637,6	K562	blood:
6	chr1:184761686..184764642-chr1:184766162..184767830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16823452	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823480	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823513	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs234637	1.00[EUR][1000 genomes]
rs234638	1.00[EUR][1000 genomes]
rs234639	1.00[EUR][1000 genomes]
rs234666	1.00[EUR][1000 genomes]
rs234671	1.00[EUR][1000 genomes]
rs234675	1.00[EUR][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664204	1.00[ASW][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669649	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132036	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132050	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7520163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7528332	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541371	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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 miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184758600-184768200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:184759800-184770000	Weak transcription	K562	blood
4	chr1:184760200-184764600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:184761800-184764400	Weak transcription	Esophagus	oesophagus
6	chr1:184762000-184781600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:184762000-184787800	Weak transcription	Spleen	Spleen
8	chr1:184762200-184767000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:184762200-184770600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:184762200-184771800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:184762200-184775000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:184762200-184775800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:184762400-184766600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:184762400-184770000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:184762400-184770400	Weak transcription	Adipose Nuclei	Adipose
16	chr1:184762400-184774800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:184762400-184775800	Weak transcription	Fetal Intestine Small	intestine
18	chr1:184762400-184789400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:184762600-184770000	Weak transcription	GM12878-XiMat	blood
20	chr1:184762600-184770200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:184762600-184771600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:184762600-184792800	Weak transcription	Colonic Mucosa	Colon
23	chr1:184762800-184764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:184762800-184767400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:184762800-184770400	Weak transcription	NHLF	lung
26	chr1:184762800-184772000	Weak transcription	HMEC	breast
27	chr1:184762800-184772200	Weak transcription	NHEK	skin
28	chr1:184763000-184770000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:184763000-184782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:184763200-184764800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:184763200-184767600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:184763200-184770000	Weak transcription	NHDF-Ad	bronchial
33	chr1:184763200-184772000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:184763200-184774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:184763400-184766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:184763400-184767800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:184763400-184768000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:184763400-184769800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:184763600-184767400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:184763600-184767400	Strong transcription	Colon Smooth Muscle	Colon
41	chr1:184763600-184767600	Strong transcription	Left Ventricle	heart
42	chr1:184763600-184767600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:184763800-184764400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:184763800-184767400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:184763800-184767600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:184763800-184781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:184764000-184766800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:184764000-184767400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:184764000-184767600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:184764200-184764400	Enhancers	H1 Cell Line	embryonic stem cell

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