Variant report

Variant	rs73041050
Chromosome Location	chr1:173926842-173926843
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	chr1:173919966..173923901-chr1:173923919..173927060,3	K562	blood:
2	chr1:173835820..173838442-chr1:173925397..173927036,2	K562	blood:

Variant related genes	Relation type
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1322769	1.00[AMR][1000 genomes]
rs16846397	1.00[AMR][1000 genomes]
rs16846483	1.00[AMR][1000 genomes]
rs2227620	1.00[AMR][1000 genomes]
rs57006357	1.00[AMR][1000 genomes]
rs57343517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57664780	1.00[AMR][1000 genomes]
rs58576036	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58735809	1.00[AMR][1000 genomes]
rs58930477	1.00[AMR][1000 genomes]
rs59355797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846661	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6704413	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025612	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025620	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027407	1.00[AMR][1000 genomes]
rs73027443	1.00[AMR][1000 genomes]
rs73027460	1.00[AMR][1000 genomes]
rs73027463	1.00[AMR][1000 genomes]
rs73027464	1.00[AMR][1000 genomes]
rs73027488	1.00[AMR][1000 genomes]
rs73035116	1.00[AMR][1000 genomes]
rs73035134	1.00[AMR][1000 genomes]
rs73035139	1.00[AMR][1000 genomes]
rs73037076	1.00[AMR][1000 genomes]
rs73037083	1.00[AMR][1000 genomes]
rs73037097	1.00[AMR][1000 genomes]
rs73041059	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7519571	1.00[AMR][1000 genomes]
rs7531236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547873	1.00[AMR][1000 genomes]
rs9726181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
3	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv872550	chr1:173913804-173964206	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173899400-173927200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:173899400-173929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:173899800-173953800	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr1:173900000-173929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:173900000-173958600	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr1:173900000-173962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:173900000-173966600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:173900000-173968200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:173900200-173966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:173900400-173964600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:173900800-173963800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:173901200-173931400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:173901400-173962200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:173901600-173966400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:173901600-173966400	Strong transcription	Dnd41	blood
16	chr1:173902200-173928200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr1:173902200-173954600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr1:173902600-173954400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:173903400-173927000	Strong transcription	Fetal Muscle Leg	muscle
20	chr1:173903400-173927000	Strong transcription	Fetal Thymus	thymus
21	chr1:173904000-173929200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:173904000-173966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:173904800-173954200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:173905000-173927000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:173905000-173938400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:173905000-173962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:173905200-173954600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:173906000-173940400	Strong transcription	Adipose Nuclei	Adipose
29	chr1:173906000-173959000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:173906200-173937600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:173906400-173931800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:173906800-173959000	Strong transcription	Liver	Liver
33	chr1:173907200-173927800	Strong transcription	Fetal Intestine Large	intestine
34	chr1:173909800-173974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:173910200-173933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:173910400-173952200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:173911800-173927000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:173913000-173930200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:173913400-173930800	Weak transcription	Psoas Muscle	Psoas
40	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
41	chr1:173915800-173930200	Weak transcription	Right Ventricle	heart
42	chr1:173916000-173929800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:173916600-173929600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:173916800-173929800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:173916800-173930400	Weak transcription	Aorta	Aorta
46	chr1:173917000-173928600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:173917000-173928800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:173917000-173928800	Weak transcription	Esophagus	oesophagus
49	chr1:173917000-173929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:173917000-173929000	Weak transcription	Rectal Smooth Muscle	rectum

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