Variant report

Variant	rs183484
Chromosome Location	chr11:4141132-4141133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4135275..4137434-chr11:4139419..4142096,2	K562	blood:

Variant related genes	Relation type
ENSG00000167325	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1015998	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835613	0.86[AMR][1000 genomes]
rs10835650	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11030842	0.90[CHB][hapmap]
rs11030976	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11030980	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11031043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11031062	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11031070	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1372804	0.90[CHB][hapmap]
rs1662161	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1662173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1980412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284452	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs232054	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2735689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2735691	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2923945	0.81[CHB][hapmap]
rs2959056	0.86[CHB][hapmap]
rs2959070	0.86[CHB][hapmap]
rs2959075	0.81[CHB][hapmap]
rs34356743	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910913	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4910914	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs54816	0.83[AMR][1000 genomes]
rs9937	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers 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	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs183484	RRM1	cis	Artery Tibial	GTEx
rs183484	CHRNA10	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117200-4142200	Weak transcription	Colonic Mucosa	Colon
2	chr11:4117400-4141800	Weak transcription	Small Intestine	intestine
3	chr11:4117600-4144600	Weak transcription	HSMMtube	muscle
4	chr11:4117600-4145200	Weak transcription	Gastric	stomach
5	chr11:4117600-4153000	Weak transcription	Stomach Mucosa	stomach
6	chr11:4117800-4147800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:4117800-4160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:4118000-4159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:4118400-4146400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:4118400-4156200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:4119400-4157600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:4121000-4159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:4121600-4142800	Weak transcription	Fetal Brain Male	brain
14	chr11:4122400-4158000	Strong transcription	Dnd41	blood
15	chr11:4122800-4141800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:4122800-4158000	Strong transcription	Fetal Thymus	thymus
17	chr11:4123000-4152000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:4123000-4157600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:4123000-4157600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:4123000-4157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:4123200-4158000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:4124000-4157600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:4124000-4157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:4126000-4142000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:4127000-4151000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:4127400-4142200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:4127400-4148400	Weak transcription	Psoas Muscle	Psoas
29	chr11:4127600-4141600	Weak transcription	Aorta	Aorta
30	chr11:4127600-4144400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:4127600-4144400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:4127600-4158000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:4130200-4144600	Weak transcription	Fetal Heart	heart
34	chr11:4131000-4150400	Strong transcription	Primary T cells from cord blood	blood
35	chr11:4131000-4157400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:4132200-4151600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr11:4132400-4141400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:4133400-4141600	Weak transcription	Brain Substantia Nigra	brain
39	chr11:4133400-4141800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:4133600-4141400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:4134200-4144400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:4135000-4141600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:4135000-4142000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:4135000-4142000	Weak transcription	HMEC	breast
45	chr11:4135000-4143000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:4135200-4141400	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:4135200-4141400	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:4135600-4141600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:4135600-4142400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:4137200-4149800	Strong transcription	Rectal Mucosa Donor 31	rectum

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