Variant report

Variant	rs73952061
Chromosome Location	chr2:74378287-74378288
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:74378210-74378982	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:74377641-74379077	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:74378262-74379666	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:74377463-74379674	GM12892	blood:	n/a	n/a
5	NFATC1	chr2:74378174-74379049	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:74377553-74379705	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:74378258-74379376	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr2:74377644-74378931	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:74374855-74381076	K562	blood:	n/a	n/a
10	POLR2A	chr2:74377731-74378919	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:74377671-74379020	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:74378287-74378952	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr2:74377616-74379636	GM12891	blood:	n/a	n/a
14	MTA3	chr2:74377520-74378837	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:74378249-74378653	K562	blood:	n/a	n/a
16	CTCF	chr2:74377502-74379605	A549	lung:	n/a	n/a
17	POLR2A	chr2:74377675-74378785	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:74378236-74379067	GM12891	blood:	n/a	n/a
19	PML	chr2:74378073-74379158	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:74376212-74379622	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:74378245-74379652	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:74377600-74378954	PFSK-1	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74377647..74380367-chr2:74411655..74413367,2	K562	blood:
2	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
3	chr2:74377295..74379594-chr2:74401810..74404492,2	K562	blood:
4	chr2:74053720..74055636-chr2:74377431..74379378,2	MCF-7	breast:
5	chr2:74345122..74348737-chr2:74377012..74381421,7	MCF-7	breast:
6	chr2:74346450..74347357-chr2:74378287..74379222,5	MCF-7	breast:
7	chr2:74377538..74380926-chr2:74424405..74427561,4	K562	blood:
8	chr2:74209447..74211523-chr2:74377686..74379947,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073263.1-2	chr2:74375825-74379516	NONHSAT071666
2	lnc-AC073263.1-2	chr2:74375825-74382164	NONHSAT071668
3	lnc-AC073263.1-2	chr2:74375825-74379516	NR_045634

No data

Variant related genes	Relation type
BOLA3	TF binding region
ENSG00000065911	Chromatin interaction
ENSG00000257800	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56067994	1.00[EUR][1000 genomes]
rs56370917	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57421736	1.00[EUR][1000 genomes]
rs61023892	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6715861	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6749199	1.00[EUR][1000 genomes]
rs73948705	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73948708	0.85[AFR][1000 genomes]
rs73952063	1.00[EUR][1000 genomes]
rs7562660	1.00[EUR][1000 genomes]
rs7598273	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74375600-74379000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:74375600-74380000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:74375600-74380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:74375600-74380400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:74375600-74381600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:74375600-74381600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:74375800-74378400	Weak transcription	Left Ventricle	heart
8	chr2:74375800-74378600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:74375800-74378600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:74375800-74378800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:74375800-74379400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:74375800-74379800	Weak transcription	Liver	Liver
13	chr2:74375800-74380000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:74375800-74380000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:74375800-74381400	Weak transcription	Hela-S3	cervix
16	chr2:74375800-74383400	Weak transcription	Psoas Muscle	Psoas
17	chr2:74375800-74391200	Weak transcription	Aorta	Aorta
18	chr2:74375800-74403600	Weak transcription	Stomach Mucosa	stomach
19	chr2:74376000-74378400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:74376000-74378600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:74376000-74378600	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:74376000-74379000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:74376000-74379400	Weak transcription	Adipose Nuclei	Adipose
24	chr2:74376000-74380000	Weak transcription	Fetal Intestine Large	intestine
25	chr2:74376000-74380000	Weak transcription	HSMMtube	muscle
26	chr2:74376000-74380200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:74376000-74380200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:74376000-74380400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:74376000-74384000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:74376000-74384000	Weak transcription	Small Intestine	intestine
31	chr2:74376000-74384200	Weak transcription	Esophagus	oesophagus
32	chr2:74376000-74384200	Weak transcription	Right Ventricle	heart
33	chr2:74376000-74385600	Weak transcription	Gastric	stomach
34	chr2:74376000-74390400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:74376000-74391800	Weak transcription	Colonic Mucosa	Colon
36	chr2:74376000-74405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:74376200-74380000	Weak transcription	Brain Angular Gyrus	brain
38	chr2:74376200-74380000	Weak transcription	Fetal Kidney	kidney
39	chr2:74376200-74380000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:74376200-74380000	Weak transcription	HUVEC	blood vessel
41	chr2:74376200-74380000	Weak transcription	Osteobl	bone
42	chr2:74376200-74380200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:74376200-74380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:74376200-74380200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:74376200-74380400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:74376200-74380800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:74376200-74381400	Weak transcription	NHLF	lung
48	chr2:74376200-74382600	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:74376200-74383400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:74376200-74383800	Weak transcription	Rectal Smooth Muscle	rectum

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