Variant report

Variant	rs11903410
Chromosome Location	chr2:172869942-172869943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172863436..172866210-chr2:172867525..172870127,5	MCF-7	breast:
2	chr2:172867998..172870491-chr2:172948122..172949809,2	MCF-7	breast:
3	chr2:172863189..172870519-chr2:172946500..172952655,22	K562	blood:
4	chr2:172867067..172870652-chr2:172884225..172887785,3	K562	blood:
5	chr2:172869928..172872436-chr2:172950140..172951979,2	MCF-7	breast:
6	chr2:172859639..172861224-chr2:172868661..172870553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10166352	0.82[ASN][1000 genomes]
rs10177679	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10179020	0.83[AMR][1000 genomes]
rs10191399	0.89[AMR][1000 genomes]
rs10196521	0.89[AMR][1000 genomes]
rs10432474	0.91[AMR][1000 genomes]
rs10930501	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1105264	0.89[AMR][1000 genomes]
rs11676484	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11677573	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11683436	0.85[ASN][1000 genomes]
rs11903123	0.83[AMR][1000 genomes]
rs12467010	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12473516	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12479374	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13031370	0.85[AMR][1000 genomes]
rs13399316	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1400816	0.86[AMR][1000 genomes]
rs1443699	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1878583	0.89[AMR][1000 genomes]
rs1982288	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1996425	0.89[AMR][1000 genomes]
rs2028670	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028671	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028672	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2292813	0.82[AMR][1000 genomes]
rs2357207	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2357208	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28372952	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3770444	0.89[AMR][1000 genomes]
rs3770457	0.83[AMR][1000 genomes]
rs3791343	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821092	0.88[AMR][1000 genomes]
rs3821094	0.86[AMR][1000 genomes]
rs3821096	0.83[AMR][1000 genomes]
rs4507064	0.82[AMR][1000 genomes]
rs4668417	0.88[AMR][1000 genomes]
rs60706248	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6433313	0.83[AMR][1000 genomes]
rs6433315	0.86[AMR][1000 genomes]
rs6433316	0.88[AMR][1000 genomes]
rs6433318	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6433322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707142	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6714214	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6726050	0.91[AMR][1000 genomes]
rs6733123	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742905	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6753551	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6753859	0.85[AMR][1000 genomes]
rs7371503	0.88[ASN][1000 genomes]
rs7371631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583860	0.84[AMR][1000 genomes]
rs7597525	0.90[ASN][1000 genomes]
rs7598232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949548	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv3031	chr2:172867462-172884232	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172865200-172886600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172865400-172877200	Weak transcription	Pancreas	Pancrea
3	chr2:172865400-172878000	Weak transcription	Gastric	stomach
4	chr2:172865600-172870400	Weak transcription	Right Ventricle	heart
5	chr2:172865600-172875200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:172865600-172876600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:172865600-172877200	Weak transcription	Psoas Muscle	Psoas
8	chr2:172865600-172878000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:172865600-172897400	Weak transcription	Primary T cells from cord blood	blood
10	chr2:172865800-172876600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:172865800-172877200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:172865800-172877600	Weak transcription	Fetal Kidney	kidney
13	chr2:172865800-172878000	Weak transcription	Primary B cells from cord blood	blood
14	chr2:172865800-172886400	Weak transcription	Fetal Intestine Small	intestine
15	chr2:172865800-172886600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:172866000-172872600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:172866000-172873600	Weak transcription	Fetal Lung	lung
18	chr2:172866000-172876400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:172866000-172877200	Weak transcription	Ovary	ovary
20	chr2:172866000-172877600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:172866000-172877800	Weak transcription	HSMM	muscle
22	chr2:172866000-172878000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:172866000-172886800	Weak transcription	HSMMtube	muscle
24	chr2:172866200-172876400	Weak transcription	Dnd41	blood
25	chr2:172866200-172877000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:172866400-172875800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:172866800-172882600	Weak transcription	K562	blood
28	chr2:172869600-172870000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:172869600-172877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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