Variant report

Variant	rs71337722
Chromosome Location	chr2:74277927-74277928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74258216..74259753-chr2:74276302..74278282,2	K562	blood:
2	chr2:74054472..74056876-chr2:74276543..74278985,2	MCF-7	breast:
3	chr2:74275740..74280453-chr2:74282056..74286021,5	K562	blood:
4	chr2:74276972..74279713-chr2:74280390..74282044,2	MCF-7	breast:
5	chr2:74274697..74276508-chr2:74277029..74279425,2	K562	blood:
6	chr2:74211413..74214477-chr2:74275717..74279146,3	MCF-7	breast:
7	chr2:74276566..74278886-chr2:74279074..74282832,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255989	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10164943	0.90[EUR][1000 genomes]
rs10168249	0.86[EUR][1000 genomes]
rs10168408	0.86[EUR][1000 genomes]
rs10168410	0.92[EUR][1000 genomes]
rs10179967	0.90[EUR][1000 genomes]
rs10191539	0.92[EUR][1000 genomes]
rs10200470	0.92[EUR][1000 genomes]
rs11126424	0.88[EUR][1000 genomes]
rs11884748	0.86[EUR][1000 genomes]
rs11885172	0.90[EUR][1000 genomes]
rs11886928	0.90[EUR][1000 genomes]
rs11898903	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328927	0.91[EUR][1000 genomes]
rs12713803	0.82[EUR][1000 genomes]
rs12713804	0.84[EUR][1000 genomes]
rs12713805	0.85[EUR][1000 genomes]
rs12713806	0.90[EUR][1000 genomes]
rs12713808	0.92[EUR][1000 genomes]
rs12713809	0.90[EUR][1000 genomes]
rs12713810	0.87[EUR][1000 genomes]
rs12988533	0.84[EUR][1000 genomes]
rs12991192	1.00[ASN][1000 genomes]
rs12995468	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005103	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006301	0.92[EUR][1000 genomes]
rs13006407	0.94[EUR][1000 genomes]
rs13011961	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013211	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014576	0.91[EUR][1000 genomes]
rs13016198	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019449	1.00[ASN][1000 genomes]
rs13021880	0.91[EUR][1000 genomes]
rs13027288	0.90[EUR][1000 genomes]
rs13027623	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030414	0.94[EUR][1000 genomes]
rs13387010	0.92[EUR][1000 genomes]
rs28450901	0.89[EUR][1000 genomes]
rs34136450	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34201525	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35592918	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35609589	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3902790	0.90[EUR][1000 genomes]
rs4073048	0.90[EUR][1000 genomes]
rs4241260	0.92[EUR][1000 genomes]
rs4270374	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328662	0.86[EUR][1000 genomes]
rs4331526	0.92[EUR][1000 genomes]
rs4364046	0.90[EUR][1000 genomes]
rs4371381	0.88[EUR][1000 genomes]
rs4374402	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416242	0.92[EUR][1000 genomes]
rs4422181	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574138	0.92[EUR][1000 genomes]
rs4578887	0.83[EUR][1000 genomes]
rs4621184	0.91[EUR][1000 genomes]
rs4852326	0.94[EUR][1000 genomes]
rs4853003	0.87[EUR][1000 genomes]
rs4853005	0.90[EUR][1000 genomes]
rs4853006	0.93[EUR][1000 genomes]
rs4853007	0.94[EUR][1000 genomes]
rs4853009	0.92[EUR][1000 genomes]
rs60279245	0.89[EUR][1000 genomes]
rs6546884	0.84[EUR][1000 genomes]
rs6546885	0.86[EUR][1000 genomes]
rs6546886	0.86[EUR][1000 genomes]
rs6546887	0.86[EUR][1000 genomes]
rs6706327	0.92[EUR][1000 genomes]
rs6712566	1.00[ASN][1000 genomes]
rs6713313	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6714186	0.85[EUR][1000 genomes]
rs6717896	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741544	0.91[EUR][1000 genomes]
rs6743073	0.85[EUR][1000 genomes]
rs6745236	0.92[EUR][1000 genomes]
rs6745576	0.90[EUR][1000 genomes]
rs6745792	0.92[EUR][1000 genomes]
rs6754218	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755711	0.90[EUR][1000 genomes]
rs6756474	0.93[EUR][1000 genomes]
rs71406850	1.00[ASN][1000 genomes]
rs7560668	0.89[EUR][1000 genomes]
rs7584777	0.90[EUR][1000 genomes]
rs7587991	0.89[EUR][1000 genomes]
rs7589915	0.91[EUR][1000 genomes]
rs7592749	0.89[EUR][1000 genomes]
rs7593050	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597388	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601526	0.94[EUR][1000 genomes]
rs7606491	0.89[EUR][1000 genomes]
rs9309478	0.90[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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74260800-74278400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:74265000-74300600	Weak transcription	Fetal Brain Male	brain
4	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
5	chr2:74266400-74287200	Weak transcription	HSMM	muscle
6	chr2:74269000-74280200	Weak transcription	HSMMtube	muscle
7	chr2:74269000-74300200	Weak transcription	Fetal Kidney	kidney
8	chr2:74269200-74278000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:74269400-74279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:74269800-74278200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
12	chr2:74270600-74280800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:74270600-74281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:74270800-74278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:74270800-74280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:74271000-74280200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:74271600-74287600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:74272600-74278400	Strong transcription	Fetal Stomach	stomach
19	chr2:74272600-74279000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:74272600-74279200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:74272600-74279200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:74272800-74279000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:74272800-74285600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:74273000-74282600	Weak transcription	Right Atrium	heart
25	chr2:74273000-74285000	Weak transcription	HMEC	breast
26	chr2:74273200-74293800	Weak transcription	Fetal Lung	lung
27	chr2:74273400-74278400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:74274000-74278200	Strong transcription	GM12878-XiMat	blood
29	chr2:74274200-74280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:74274400-74286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:74274800-74281000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
33	chr2:74275600-74280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:74275600-74285800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:74275600-74304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:74275800-74281000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:74275800-74301400	Weak transcription	A549	lung
38	chr2:74275800-74301600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:74276000-74279400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:74276000-74280400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:74276000-74280400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:74276000-74285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:74276000-74294800	Weak transcription	Right Ventricle	heart
46	chr2:74276200-74278000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:74276200-74279800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:74276200-74279800	Enhancers	Brain Substantia Nigra	brain
49	chr2:74276200-74280400	Weak transcription	Placenta	Placenta
50	chr2:74276200-74280800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links