Variant report

Variant	rs41273537
Chromosome Location	chr1:150429944-150429945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150336267..150338150-chr1:150429744..150431564,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11204665	1.00[AFR][1000 genomes]
rs11205360	0.85[EUR][1000 genomes]
rs11205361	0.86[EUR][1000 genomes]
rs11205362	0.88[EUR][1000 genomes]
rs11205367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11205374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11205377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205386	0.85[EUR][1000 genomes]
rs11576289	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11576293	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11577751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11578585	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11579341	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11580234	0.88[EUR][1000 genomes]
rs11580764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11582835	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11584070	0.88[EUR][1000 genomes]
rs11584761	0.84[EUR][1000 genomes]
rs11586880	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11587606	0.88[EUR][1000 genomes]
rs11587682	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11587837	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11588221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12119320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12120428	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12120683	0.88[EUR][1000 genomes]
rs12120867	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123044	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12126312	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12128385	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12129037	0.82[EUR][1000 genomes]
rs12132918	1.00[AFR][1000 genomes]
rs12134682	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12138453	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12138787	0.84[EUR][1000 genomes]
rs12139286	0.84[EUR][1000 genomes]
rs12142178	0.84[EUR][1000 genomes]
rs12142331	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12142874	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12144315	0.87[EUR][1000 genomes]
rs12144958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12145630	0.85[EUR][1000 genomes]
rs16835780	0.84[EUR][1000 genomes]
rs2133128	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28560019	0.88[EUR][1000 genomes]
rs34848955	1.00[AFR][1000 genomes]
rs41264469	1.00[AFR][1000 genomes]
rs41300865	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4265470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55973252	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56133109	0.84[EUR][1000 genomes]
rs66464034	0.81[EUR][1000 genomes]
rs72696807	0.88[EUR][1000 genomes]
rs72696808	0.88[EUR][1000 genomes]
rs72696824	0.88[EUR][1000 genomes]
rs72696828	0.88[EUR][1000 genomes]
rs72696841	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72696848	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696852	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696855	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72696859	0.96[EUR][1000 genomes]
rs72696873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72696880	1.00[AFR][1000 genomes]
rs72696901	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72698822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698842	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72698892	1.00[AFR][1000 genomes]
rs72700804	1.00[AFR][1000 genomes]
rs72700810	1.00[AFR][1000 genomes]
rs72700813	1.00[AFR][1000 genomes]
rs942453	0.83[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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150373200-150442800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150382000-150432400	Weak transcription	Fetal Brain Male	brain
3	chr1:150383400-150432200	Weak transcription	Right Ventricle	heart
4	chr1:150383400-150443200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:150401400-150448200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:150409800-150437000	Strong transcription	Fetal Thymus	thymus
7	chr1:150410800-150434400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:150411200-150446400	Strong transcription	Dnd41	blood
9	chr1:150412000-150443000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:150413400-150436000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:150413600-150446200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:150413600-150446400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:150413800-150446000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:150414000-150446400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:150414200-150433600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:150414200-150434200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:150414200-150440800	Strong transcription	Fetal Intestine Large	intestine
18	chr1:150414400-150442200	Weak transcription	Fetal Heart	heart
19	chr1:150419200-150430000	Weak transcription	NHDF-Ad	bronchial
20	chr1:150419200-150441000	Weak transcription	HMEC	breast
21	chr1:150419200-150442200	Weak transcription	NH-A	brain
22	chr1:150419200-150443200	Weak transcription	Psoas Muscle	Psoas
23	chr1:150419400-150432400	Weak transcription	HSMMtube	muscle
24	chr1:150419800-150431200	Weak transcription	Esophagus	oesophagus
25	chr1:150419800-150434800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:150422800-150446400	Strong transcription	Fetal Stomach	stomach
27	chr1:150423000-150436600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:150423800-150447200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:150424800-150446600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:150425200-150446200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:150425600-150435800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:150425800-150432800	Strong transcription	HepG2	liver
33	chr1:150425800-150433400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr1:150425800-150433800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:150425800-150434400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:150425800-150434600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:150425800-150434600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:150425800-150435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:150425800-150445600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:150425800-150445800	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:150425800-150447000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:150426200-150433200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:150426800-150438600	Strong transcription	Thymus	Thymus
44	chr1:150426800-150446400	Strong transcription	Fetal Intestine Small	intestine
45	chr1:150427000-150438400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:150427200-150432800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:150427200-150433000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:150427400-150438600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:150427800-150436600	Weak transcription	K562	blood
50	chr1:150427800-150438000	Weak transcription	HSMM	muscle

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