Variant report

Variant	rs12074821
Chromosome Location	chr1:174930956-174930957
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	chr1:174927580..174945830-chr1:174955726..174971213,32	K562	blood:

Variant related genes	Relation type
ENSG00000252552	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1002125	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10489333	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912849	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10912850	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10912870	0.81[ASN][1000 genomes]
rs12065854	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12066247	0.83[EUR][1000 genomes]
rs12068100	0.83[AFR][1000 genomes]
rs12068637	0.83[EUR][1000 genomes]
rs12073786	0.83[AFR][1000 genomes]
rs12087196	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12087589	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12088588	0.80[ASN][1000 genomes]
rs12562194	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565944	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12566477	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16847563	0.81[AMR][1000 genomes]
rs16847633	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16847706	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285209	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28660133	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41266068	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41266072	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57366106	0.82[EUR][1000 genomes]
rs61828117	0.87[AMR][1000 genomes]
rs61828121	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61828143	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61828144	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61828148	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828149	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828151	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828152	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828156	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61828157	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
3	chr1:174908000-174932400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:174908800-174932200	Weak transcription	Primary T cells from cord blood	blood
5	chr1:174910400-174932400	Weak transcription	HSMMtube	muscle
6	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:174912600-174934800	Weak transcription	Left Ventricle	heart
8	chr1:174914800-174932800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:174923000-174933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:174923400-174932400	Weak transcription	Fetal Heart	heart
11	chr1:174924000-174932200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:174924000-174932400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:174924000-174933400	Weak transcription	Ovary	ovary
14	chr1:174924000-174933800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:174924000-174938200	Weak transcription	Psoas Muscle	Psoas
16	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
17	chr1:174924400-174932400	Weak transcription	Fetal Stomach	stomach
18	chr1:174924400-174933600	Weak transcription	Fetal Kidney	kidney
19	chr1:174924400-174958200	Weak transcription	Fetal Brain Male	brain
20	chr1:174924600-174932800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:174924600-174932800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:174924800-174932400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:174924800-174932600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:174925000-174933200	Weak transcription	Primary B cells from cord blood	blood
25	chr1:174925000-174933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:174925000-174934400	Weak transcription	Pancreas	Pancrea
27	chr1:174925000-174940800	Weak transcription	Gastric	stomach
28	chr1:174926800-174932200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:174927000-174932000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:174927200-174932400	Weak transcription	Liver	Liver
31	chr1:174927200-174932400	Weak transcription	Small Intestine	intestine
32	chr1:174927400-174932000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:174927400-174932000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:174927400-174932000	Weak transcription	Dnd41	blood
35	chr1:174927400-174932400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:174927600-174933200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:174927800-174932200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:174927800-174934400	Weak transcription	Right Atrium	heart
39	chr1:174928000-174932200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:174928000-174932200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:174928000-174932400	Weak transcription	K562	blood
42	chr1:174928000-174932800	Weak transcription	Fetal Intestine Large	intestine
43	chr1:174928000-174933400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:174928000-174933800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:174928000-174934200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:174928000-174938200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:174928200-174931800	Weak transcription	GM12878-XiMat	blood
48	chr1:174928200-174932000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:174928200-174932400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:174928200-174932400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links