Variant report

Variant	rs2841514
Chromosome Location	chr6:13601528-13601529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:13599355..13602057-chr6:13614335..13617136,3	K562	blood:
2	chr6:13601149..13604044-chr6:13605936..13609262,4	MCF-7	breast:
3	chr6:13594654..13597328-chr6:13598596..13601832,4	K562	blood:
4	chr6:13599146..13601637-chr6:13608396..13610260,2	K562	blood:
5	chr6:13593118..13602779-chr6:13610915..13617941,16	K562	blood:
6	chr6:13571528..13575473-chr6:13600705..13603709,4	K562	blood:
7	chr6:13591447..13596407-chr6:13601014..13606482,5	K562	blood:
8	chr6:13598043..13602874-chr6:13603391..13607847,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10807467	0.94[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10948804	0.96[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes]
rs10948811	0.92[YRI][hapmap]
rs11962124	0.96[CEU][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12209803	1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12664567	1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1362520	0.82[YRI][hapmap]
rs1573702	0.89[YRI][hapmap]
rs2237092	0.86[YRI][hapmap]
rs2841515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2841517	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2841518	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2841520	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2841521	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2841522	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2841523	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2841524	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3757260	0.96[CEU][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3800503	0.94[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3823453	0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3846912	0.85[YRI][hapmap]
rs3906327	0.89[YRI][hapmap]
rs6459020	0.89[YRI][hapmap]
rs6899402	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6915775	0.82[YRI][hapmap]
rs6940759	0.89[YRI][hapmap]
rs7744218	0.89[YRI][hapmap]
rs7745101	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7760411	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2841514	HIVEP1	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13575600-13608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:13575600-13613800	Weak transcription	Stomach Mucosa	stomach
3	chr6:13575600-13614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:13575800-13614200	Weak transcription	HUVEC	blood vessel
5	chr6:13575800-13614600	Weak transcription	Right Atrium	heart
6	chr6:13576200-13614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:13580400-13614800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:13585600-13613800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:13586800-13601600	Strong transcription	Primary B cells from cord blood	blood
10	chr6:13586800-13602200	Strong transcription	Fetal Stomach	stomach
11	chr6:13586800-13602400	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr6:13586800-13603000	Strong transcription	Primary T cells from cord blood	blood
13	chr6:13586800-13606800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr6:13586800-13608000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:13587000-13602000	Strong transcription	Adipose Nuclei	Adipose
16	chr6:13587000-13602400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:13587000-13603000	Strong transcription	Fetal Muscle Leg	muscle
18	chr6:13587000-13608600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr6:13588400-13614200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:13588600-13611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:13588600-13614000	Weak transcription	NHLF	lung
22	chr6:13588600-13614400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:13588800-13614600	Weak transcription	Small Intestine	intestine
24	chr6:13589000-13608000	Strong transcription	Liver	Liver
25	chr6:13589000-13611800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:13589000-13614400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:13590400-13601600	Strong transcription	Right Ventricle	heart
28	chr6:13590400-13608000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:13590800-13601600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr6:13591000-13601600	Strong transcription	Brain Substantia Nigra	brain
31	chr6:13591000-13602200	Strong transcription	Ovary	ovary
32	chr6:13591000-13602600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:13591200-13601800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:13591200-13607000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:13591200-13607000	Strong transcription	Left Ventricle	heart
36	chr6:13591400-13602000	Weak transcription	HSMM	muscle
37	chr6:13591400-13603000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:13591600-13605400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:13591800-13601800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr6:13591800-13603000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:13591800-13603800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:13591800-13605600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:13591800-13606600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:13592000-13606800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:13593000-13613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:13594000-13602400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:13594000-13605400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:13594200-13601800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:13594200-13604800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:13594200-13605800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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