Variant report

Variant	rs73470723
Chromosome Location	chr11:58344237-58344238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:58342402-58348892	K562	blood:	n/a	n/a
2	POLR2A	chr11:58344108-58344729	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:58343758-58347552	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:58342757-58347555	Raji	blood:	n/a	n/a
5	POLR2A	chr11:58344110-58347672	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:58344151-58344583	K562	blood:	n/a	n/a
7	USF2	chr11:58343966-58346405	Hela-S3	cervix:	n/a	n/a
8	GATA3	chr11:58344059-58344241	SH-SY5Y	brain:	n/a	n/a
9	MTA3	chr11:58342551-58346632	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:58343703-58347651	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:58343841-58347548	GM18505	blood:	n/a	n/a
12	POLR2A	chr11:58344179-58347715	U87	brain:	n/a	n/a
13	POLR2A	chr11:58344055-58346543	U87	brain:	n/a	n/a
14	POLR2A	chr11:58342748-58347495	GM19099	blood:	n/a	n/a
15	POLR2A	chr11:58344145-58347696	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:58344202-58344482	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:58343627-58347612	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:58344180-58344536	GM12891	blood:	n/a	n/a
19	JUN	chr11:58344164-58347736	K562	blood:	n/a	chr11:58347512-58347521 chr11:58346513-58346522 chr11:58345782-58345792 chr11:58346257-58346266 chr11:58345783-58345791 chr11:58346420-58346429
20	POLR2A	chr11:58344178-58344252	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:58341968-58347772	GM12892	blood:	n/a	n/a
22	POLR2A	chr11:58340783-58347750	GM12878	blood:	n/a	n/a
23	CTCF	chr11:58344220-58344370	GM12872	blood:	n/a	n/a
24	POLR2A	chr11:58344185-58347669	U87	brain:	n/a	n/a
25	CTCF	chr11:58344220-58344370	GM12869	blood:	n/a	n/a
26	POLR2A	chr11:58343984-58346543	U87	brain:	n/a	n/a
27	TBL1XR1	chr11:58344221-58344256	K562	blood:	n/a	n/a
28	NFIC	chr11:58344125-58346578	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:58343765-58347822	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:58340797-58347609	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:58344076-58344439	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:58340757-58348164	GM12891	blood:	n/a	n/a
33	CHD1	chr11:58344203-58348469	IMR90	lung:	n/a	chr11:58346265-58346274 chr11:58346484-58346494 chr11:58346341-58346350 chr11:58346680-58346690
34	POLR2A	chr11:58344114-58344488	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:58344236-58344643	Hela-S3	cervix:	n/a	n/a
36	HCFC1	chr11:58344165-58348252	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:58340360-58347719	GM12892	blood:	n/a	n/a
38	ZNF384	chr11:58344184-58344893	K562	blood:	n/a	n/a
39	POLR2A	chr11:58342626-58348333	IMR90	lung:	n/a	n/a
40	WRNIP1	chr11:58344223-58344423	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58344216..58344800-chr11:58397105..58397970,2	MCF-7	breast:
2	chr11:58341513..58344415-chr11:58344785..58347272,2	MCF-7	breast:
3	chr11:58343669..58348848-chr11:58387112..58391418,8	K562	blood:
4	chr11:58292350..58294011-chr11:58343691..58345375,2	K562	blood:
5	chr11:58344188..58345053-chr11:58555383..58556475,3	MCF-7	breast:
6	chr11:58343237..58345881-chr11:58936566..58939542,2	K562	blood:

Variant related genes	Relation type
ZFP91	TF binding region
LPXN	TF binding region
ZFP91-CNTF	TF binding region
ENSG00000186660	Chromatin interaction
ENSG00000242689	Chromatin interaction
ENSG00000110042	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000255073	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs58433279	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58454093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59856964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470711	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470726	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470731	1.00[AMR][1000 genomes]
rs73470732	1.00[AMR][1000 genomes]
rs73470748	1.00[AMR][1000 genomes]
rs73470749	1.00[AMR][1000 genomes]
rs73470751	1.00[AMR][1000 genomes]
rs73470756	1.00[AMR][1000 genomes]
rs73470758	0.85[AMR][1000 genomes]
rs73472048	0.83[AMR][1000 genomes]
rs73485922	0.85[AMR][1000 genomes]
rs73485926	0.85[AMR][1000 genomes]
rs73485934	0.85[AMR][1000 genomes]
rs73485945	1.00[AMR][1000 genomes]
rs73487714	1.00[AMR][1000 genomes]
rs73487735	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487737	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv528190	chr11:58336620-58347765	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58318400-58344800	Weak transcription	Fetal Brain Male	brain
2	chr11:58318600-58344400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:58321800-58345000	Weak transcription	Ovary	ovary
4	chr11:58329400-58344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:58330600-58345000	Weak transcription	Gastric	stomach
6	chr11:58337600-58345000	Weak transcription	Lung	lung
7	chr11:58339800-58345000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr11:58340400-58345200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr11:58340600-58344600	Enhancers	Fetal Heart	heart
10	chr11:58340800-58344800	Enhancers	Colon Smooth Muscle	Colon
11	chr11:58340800-58344800	Flanking Active TSS	Dnd41	blood
12	chr11:58341000-58344600	Flanking Active TSS	NHDF-Ad	bronchial
13	chr11:58341000-58345400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:58341600-58344400	Enhancers	HUVEC	blood vessel
15	chr11:58341600-58344800	Weak transcription	Right Atrium	heart
16	chr11:58341600-58344800	Weak transcription	Right Ventricle	heart
17	chr11:58341800-58344400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:58342200-58346000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:58342600-58344400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:58342600-58344600	Flanking Active TSS	NHLF	lung
21	chr11:58342800-58344600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:58342800-58345000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr11:58343000-58344400	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:58343000-58344400	Enhancers	Fetal Brain Female	brain
25	chr11:58343000-58344400	Enhancers	Fetal Kidney	kidney
26	chr11:58343200-58344400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:58343200-58344400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr11:58343200-58344800	Enhancers	Small Intestine	intestine
29	chr11:58343400-58344400	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:58343400-58344400	Enhancers	Brain Substantia Nigra	brain
31	chr11:58343400-58344400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:58343400-58344400	Enhancers	HSMM	muscle
33	chr11:58343400-58344400	Enhancers	HSMMtube	muscle
34	chr11:58343400-58344400	Enhancers	NHEK	skin
35	chr11:58343400-58344600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:58343400-58344600	Enhancers	Primary B cells from peripheral blood	blood
37	chr11:58343400-58344600	Enhancers	Brain Angular Gyrus	brain
38	chr11:58343400-58344600	Enhancers	Brain Anterior Caudate	brain
39	chr11:58343400-58344600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:58343400-58344600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:58343400-58344600	Enhancers	Osteobl	bone
42	chr11:58343400-58344800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:58343400-58344800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:58343400-58344800	Enhancers	Adipose Nuclei	Adipose
45	chr11:58343400-58344800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr11:58343400-58345000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr11:58343400-58345000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:58343400-58345000	Weak transcription	Esophagus	oesophagus
49	chr11:58343400-58345000	Weak transcription	Pancreas	Pancrea
50	chr11:58343400-58345200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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