Variant report

Variant	rs73850012
Chromosome Location	chr4:129769261-129769262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129764059..129767011-chr4:129767338..129770023,2	MCF-7	breast:
2	chr4:129766486..129769711-chr4:129773177..129777072,3	K562	blood:
3	chr4:129760081..129764752-chr4:129766854..129770363,4	K562	blood:
4	chr4:129736742..129738918-chr4:129767515..129769516,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs55707740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55753141	1.00[AMR][1000 genomes]
rs55764329	0.82[AFR][1000 genomes]
rs56002856	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56017737	1.00[AMR][1000 genomes]
rs56069250	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57542268	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57925170	1.00[AMR][1000 genomes]
rs58053026	0.82[AFR][1000 genomes]
rs58701517	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60005322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61267810	0.91[AFR][1000 genomes]
rs61700015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846989	1.00[AMR][1000 genomes]
rs73846992	1.00[AMR][1000 genomes]
rs73846993	1.00[AMR][1000 genomes]
rs73846994	1.00[AMR][1000 genomes]
rs73846999	1.00[AMR][1000 genomes]
rs73847304	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847305	0.91[AFR][1000 genomes]
rs73847310	0.82[AFR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847329	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847332	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847334	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847342	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847354	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847356	0.82[AFR][1000 genomes]
rs73847358	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847375	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847383	1.00[AMR][1000 genomes]
rs73847391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847395	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850005	1.00[AMR][1000 genomes]
rs73850009	1.00[AMR][1000 genomes]
rs73850010	1.00[AMR][1000 genomes]
rs73850011	1.00[AMR][1000 genomes]
rs73850013	1.00[AMR][1000 genomes]
rs73850015	1.00[AMR][1000 genomes]
rs73850016	1.00[AMR][1000 genomes]
rs73850017	1.00[AMR][1000 genomes]
rs73850018	1.00[AMR][1000 genomes]
rs73850019	1.00[AMR][1000 genomes]
rs73850027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850062	0.82[AFR][1000 genomes]
rs73850063	0.82[AFR][1000 genomes]
rs73850064	0.82[AFR][1000 genomes];1.00[AMR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129746800-129770200	Weak transcription	HMEC	breast
2	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:129753800-129770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:129754400-129770600	Weak transcription	Fetal Kidney	kidney
6	chr4:129757000-129770000	Weak transcription	Small Intestine	intestine
7	chr4:129760400-129783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:129761600-129770800	Strong transcription	NHDF-Ad	bronchial
9	chr4:129761600-129779400	Strong transcription	Fetal Stomach	stomach
10	chr4:129761600-129782000	Strong transcription	Fetal Intestine Small	intestine
11	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
12	chr4:129761800-129775000	Strong transcription	GM12878-XiMat	blood
13	chr4:129762000-129782800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr4:129762200-129773800	Strong transcription	Dnd41	blood
15	chr4:129762200-129775000	Strong transcription	Fetal Thymus	thymus
16	chr4:129762400-129771800	Strong transcription	K562	blood
17	chr4:129762400-129775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:129762400-129775000	Strong transcription	HSMM	muscle
19	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr4:129762600-129775000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:129762600-129775400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:129763000-129774600	Strong transcription	Primary T cells from cord blood	blood
24	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:129763000-129785800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:129763000-129787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:129763200-129784000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:129763200-129784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:129763400-129774800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:129763400-129784200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:129763600-129774600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:129763600-129774800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:129763600-129774800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:129763600-129774800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:129763600-129777400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:129763600-129780400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr4:129763600-129786600	Strong transcription	Fetal Intestine Large	intestine
38	chr4:129763800-129769600	Strong transcription	NH-A	brain
39	chr4:129763800-129774000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:129763800-129774400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:129763800-129775000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:129763800-129775200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr4:129763800-129776400	Strong transcription	Hela-S3	cervix
44	chr4:129763800-129776600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr4:129763800-129780400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:129763800-129780400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:129763800-129783400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:129763800-129784000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr4:129763800-129784200	Strong transcription	Brain Germinal Matrix	brain
50	chr4:129764000-129769400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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