Variant report

Variant	rs6700802
Chromosome Location	chr1:114391052-114391053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114390853..114392671-chr1:114469373..114472288,2	K562	blood:
2	chr1:114390544..114392097-chr1:114451308..114453873,2	MCF-7	breast:
3	chr1:114391050..114392741-chr1:114424919..114426499,2	MCF-7	breast:
4	chr1:114388839..114391428-chr1:114410899..114412485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163349	Chromatin interaction
ENSG00000235527	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10745340	0.85[YRI][hapmap]
rs10776775	0.85[YRI][hapmap]
rs10858022	0.85[YRI][hapmap]
rs11582409	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11584821	1.00[YRI][hapmap]
rs1217391	0.85[YRI][hapmap]
rs1217392	0.85[YRI][hapmap]
rs17463292	0.82[AFR][1000 genomes]
rs17464525	0.85[YRI][hapmap]
rs17509844	0.82[AFR][1000 genomes]
rs17510162	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs35173468	0.82[AFR][1000 genomes]
rs35955172	1.00[AMR][1000 genomes]
rs3761935	0.82[AFR][1000 genomes]
rs3765598	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3789604	0.82[AFR][1000 genomes]
rs3789608	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs3789613	0.85[YRI][hapmap]
rs3811021	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3827733	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4839346	0.82[AFR][1000 genomes]
rs55646484	0.82[AFR][1000 genomes]
rs55940960	0.82[AFR][1000 genomes]
rs61742852	1.00[AMR][1000 genomes]
rs6537791	1.00[AMR][1000 genomes]
rs6537796	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6658523	0.82[AFR][1000 genomes]
rs6661817	0.85[YRI][hapmap]
rs6673379	1.00[AMR][1000 genomes]
rs6693766	1.00[AMR][1000 genomes]
rs6694929	1.00[AMR][1000 genomes]
rs7512645	1.00[AMR][1000 genomes]
rs7519133	1.00[AMR][1000 genomes]
rs7523862	0.85[YRI][hapmap]
rs7524200	0.82[YRI][hapmap]
rs7527562	1.00[AMR][1000 genomes]
rs7545980	1.00[AMR][1000 genomes]
rs7547536	1.00[AMR][1000 genomes]
rs7554422	1.00[AMR][1000 genomes]
rs7556589	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355000-114401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:114355000-114401000	Weak transcription	Spleen	Spleen
3	chr1:114355800-114397400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:114357000-114392200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:114377600-114392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:114377600-114392800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:114378000-114402600	Weak transcription	Colonic Mucosa	Colon
9	chr1:114379000-114393000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:114379200-114391600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:114379800-114391400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:114382600-114392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:114385800-114391800	Strong transcription	Primary B cells from cord blood	blood
14	chr1:114387600-114391600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:114388000-114393200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:114388400-114391400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:114389000-114391800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:114389200-114391200	Strong transcription	Fetal Thymus	thymus
19	chr1:114389200-114391400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:114389200-114391600	Strong transcription	Dnd41	blood
21	chr1:114389600-114391400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:114389800-114391200	Strong transcription	Primary T cells from cord blood	blood
23	chr1:114389800-114391200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:114389800-114392600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:114390200-114391400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:114390200-114391400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:114390400-114391200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr1:114390400-114391200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:114390600-114397000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:114390800-114394000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:114390800-114394200	Weak transcription	GM12878-XiMat	blood
32	chr1:114390800-114400200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:114391000-114395600	Weak transcription	Thymus	Thymus
34	chr1:114391000-114396600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links