Variant report

Variant	rs7149396
Chromosome Location	chr14:68814647-68814648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68806501..68808073-chr14:68812909..68815753,2	MCF-7	breast:
2	chr14:68813990..68815788-chr14:69260981..69262578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10083393	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10131654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10135678	0.95[EUR][1000 genomes]
rs10136039	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10144669	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483807	0.83[CHB][hapmap];0.95[GIH][hapmap]
rs11158728	0.85[GIH][hapmap]
rs11158730	0.83[CHB][hapmap];0.95[GIH][hapmap]
rs11621881	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627646	0.85[GIH][hapmap]
rs12880109	0.83[CHB][hapmap];0.97[GIH][hapmap]
rs12890124	0.85[GIH][hapmap]
rs12892777	0.95[GIH][hapmap]
rs1956523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1956526	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1956528	0.85[GIH][hapmap]
rs1956529	0.85[GIH][hapmap]
rs1956532	0.85[GIH][hapmap]
rs2013413	0.95[GIH][hapmap]
rs2064912	0.85[GIH][hapmap]
rs2064914	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2145422	0.86[JPT][hapmap]
rs2145423	0.83[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs3784104	0.85[GIH][hapmap]
rs3784106	0.86[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784108	0.85[GIH][hapmap]
rs3784110	0.86[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3784111	0.89[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4410007	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899238	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902566	0.94[ASW][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62635808	0.84[ASN][1000 genomes]
rs7144422	0.86[ASN][1000 genomes]
rs7146110	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7147852	0.83[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs7148322	0.80[CEU][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7148412	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7150988	0.85[GIH][hapmap]
rs7151629	0.88[ASW][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[EUR][1000 genomes]
rs7493547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013078	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013968	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017304	0.85[GIH][hapmap]
rs8022860	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911254	0.83[CHB][hapmap];0.95[GIH][hapmap]
rs911255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911258	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs927220	0.85[GIH][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.94[EUR][1000 genomes]
rs9323506	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9989152	0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7149396	RAD51L1	cis	parietal	SCAN
rs7149396	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68808600-68819200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68809000-68816400	Weak transcription	Fetal Intestine Large	intestine
3	chr14:68811000-68816400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:68811000-68829800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:68811800-68816400	Weak transcription	Fetal Brain Male	brain
6	chr14:68812200-68814800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:68812400-68814800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:68812400-68818600	Enhancers	Fetal Stomach	stomach
9	chr14:68812800-68816000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:68813000-68814800	Enhancers	Brain Hippocampus Middle	brain
11	chr14:68813200-68814800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:68813400-68816400	Weak transcription	Fetal Thymus	thymus
13	chr14:68813600-68814800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:68813600-68825600	Weak transcription	Primary B cells from cord blood	blood
15	chr14:68813800-68815400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:68813800-68815600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:68813800-68816400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:68814000-68814800	Enhancers	Primary B cells from peripheral blood	blood
19	chr14:68814000-68814800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:68814000-68814800	Enhancers	Brain Cingulate Gyrus	brain
21	chr14:68814000-68816400	Weak transcription	Fetal Kidney	kidney
22	chr14:68814200-68815400	Weak transcription	HepG2	liver
23	chr14:68814200-68816400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:68814200-68816400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:68814200-68820400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:68814400-68815800	Weak transcription	Fetal Intestine Small	intestine
27	chr14:68814400-68816200	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:68814600-68815800	Weak transcription	Fetal Lung	lung

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