Variant report

Variant	rs34305873
Chromosome Location	chr2:98374397-98374398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98373619..98375783-chr2:98377348..98379631,2	MCF-7	breast:
2	chr2:98279652..98281839-chr2:98374236..98375884,2	MCF-7	breast:
3	chr2:98371016..98372901-chr2:98373770..98376457,3	K562	blood:

Variant related genes	Relation type
ENSG00000115073	Chromatin interaction
ENSG00000075568	Chromatin interaction
ENSG00000201806	Chromatin interaction
ENSG00000228486	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10166513	0.85[ASN][1000 genomes]
rs10167772	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10168543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10168709	0.84[AMR][1000 genomes]
rs10169155	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10175129	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10180434	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10180837	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10183768	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10188497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10188713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10189414	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10191101	0.85[ASN][1000 genomes]
rs10192322	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10202138	0.85[ASN][1000 genomes]
rs10206684	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10208070	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10210520	0.91[ASN][1000 genomes]
rs11893437	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11894541	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11894895	0.91[ASN][1000 genomes]
rs11897301	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12712117	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12712120	0.91[ASN][1000 genomes]
rs12712147	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12712162	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12712163	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12712172	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12991122	0.86[AMR][1000 genomes]
rs12992955	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13000585	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13004862	0.80[ASN][1000 genomes]
rs13008678	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13008904	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13010004	0.91[ASN][1000 genomes]
rs13012645	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13387725	0.85[AMR][1000 genomes]
rs13404788	0.86[AMR][1000 genomes]
rs13427422	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1446327	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1503202	0.85[AMR][1000 genomes]
rs1960329	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1982336	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2121271	0.91[ASN][1000 genomes]
rs2293679	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2305142	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34190123	0.85[ASN][1000 genomes]
rs34414288	0.91[ASN][1000 genomes]
rs35185431	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35203092	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35402416	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35776557	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35807655	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36079497	0.80[AMR][1000 genomes]
rs3821053	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55753459	0.85[ASN][1000 genomes]
rs6543088	1.00[ASN][1000 genomes]
rs6543111	0.88[ASN][1000 genomes]
rs6707719	0.83[AMR][1000 genomes]
rs6707750	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6712078	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6721323	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6728312	0.91[ASN][1000 genomes]
rs6738401	0.85[ASN][1000 genomes]
rs6751727	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6755021	0.85[ASN][1000 genomes]
rs6760008	0.91[ASN][1000 genomes]
rs6875	0.97[ASN][1000 genomes]
rs71429373	0.85[ASN][1000 genomes]
rs718159	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7557495	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7570009	0.91[ASN][1000 genomes]
rs7582298	0.85[ASN][1000 genomes]
rs7588227	0.80[AMR][1000 genomes]
rs7593290	0.91[ASN][1000 genomes]
rs7594928	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7595039	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7599043	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9784011	0.83[AMR][1000 genomes]
rs9808558	0.87[AMR][1000 genomes];0.80[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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98359200-98382400	Weak transcription	Psoas Muscle	Psoas
3	chr2:98363200-98375600	Weak transcription	Hela-S3	cervix
4	chr2:98364600-98374800	Weak transcription	Stomach Mucosa	stomach
5	chr2:98364600-98375000	Weak transcription	Fetal Brain Male	brain
6	chr2:98365400-98375000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:98365400-98375400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:98365400-98375800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:98366400-98376800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:98366400-98384600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:98366800-98377600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:98367200-98385000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:98367400-98380000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:98368400-98377000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:98368400-98383600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:98369200-98381200	Weak transcription	Fetal Heart	heart
20	chr2:98369400-98376600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:98369600-98398800	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:98369800-98374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:98369800-98384800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:98370200-98376800	Weak transcription	NHDF-Ad	bronchial
25	chr2:98370200-98392600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:98370400-98376600	Strong transcription	Primary T cells from cord blood	blood
27	chr2:98370400-98382800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:98370400-98383600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:98370400-98386400	Strong transcription	Fetal Intestine Small	intestine
30	chr2:98370600-98381800	Strong transcription	Lung	lung
31	chr2:98370600-98384400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:98370600-98384400	Strong transcription	Placenta	Placenta
33	chr2:98370600-98392400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:98370600-98393800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
36	chr2:98370800-98375400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr2:98370800-98384200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:98370800-98384400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:98370800-98384400	Strong transcription	Fetal Stomach	stomach
40	chr2:98371000-98375600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:98371000-98375800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:98371000-98376600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:98371000-98377800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:98371000-98379200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:98371000-98379800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:98371000-98379800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:98371000-98383000	Strong transcription	Brain Angular Gyrus	brain
48	chr2:98371000-98383000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:98371000-98383400	Strong transcription	Brain Cingulate Gyrus	brain
50	chr2:98371000-98384800	Strong transcription	Fetal Intestine Large	intestine

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