Variant report

Variant	rs911256
Chromosome Location	chr14:68773580-68773581
allele	C/G
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68770678..68778907-chr14:69255944..69264299,32	MCF-7	breast:
2	chr14:68771546..68782546-chr14:69251132..69265678,35	MCF-7	breast:
3	chr14:68772538..68775066-chr9:30973909..30976210,2	MCF-7	breast:
4	chr14:68772101..68775016-chr14:68999200..69001646,2	MCF-7	breast:
5	chr14:68715259..68719440-chr14:68772805..68775724,5	MCF-7	breast:
6	chr14:68747190..68749471-chr14:68772017..68773815,2	MCF-7	breast:
7	chr14:68772744..68775505-chr14:68776468..68778745,2	MCF-7	breast:
8	chr14:68773574..68776467-chr14:68830101..68831913,2	MCF-7	breast:
9	chr14:68773160..68773981-chr14:69036442..69037417,3	MCF-7	breast:
10	chr14:68758495..68760542-chr14:68773448..68775284,2	MCF-7	breast:
11	chr14:68773160..68774014-chr14:69036442..69037399,5	MCF-7	breast:
12	chr14:68324435..68327325-chr14:68773194..68775076,2	MCF-7	breast:
13	chr14:68773440..68776404-chr14:68870771..68875059,3	MCF-7	breast:
14	chr14:68773014..68775765-chr14:69170591..69173444,2	MCF-7	breast:
15	chr14:68773432..68774112-chr14:68925756..68926395,2	MCF-7	breast:
16	chr14:68772006..68774529-chr14:68858982..68860714,2	MCF-7	breast:
17	chr14:68759580..68761142-chr14:68771842..68774363,2	MCF-7	breast:
18	chr14:68750460..68752816-chr14:68771764..68775094,3	MCF-7	breast:
19	chr14:68772189..68774802-chr14:69035242..69038239,3	MCF-7	breast:
20	chr14:68726546..68729527-chr14:68773268..68775241,2	MCF-7	breast:
21	chr14:68764415..68769564-chr14:68770855..68774967,6	MCF-7	breast:
22	chr14:68718999..68725813-chr14:68770906..68776082,15	MCF-7	breast:
23	chr14:68746874..68748839-chr14:68773271..68775923,2	MCF-7	breast:
24	chr14:68709605..68712034-chr14:68773176..68774923,2	MCF-7	breast:
25	chr14:68772159..68774969-chr14:69141691..69143278,2	MCF-7	breast:
26	chr14:68606890..68608709-chr14:68772989..68775873,2	MCF-7	breast:
27	chr14:68773035..68775365-chr14:69282821..69285727,2	MCF-7	breast:
28	chr14:68409488..68412789-chr14:68771965..68776404,3	MCF-7	breast:
29	chr14:68773192..68776654-chr14:68782596..68784828,4	MCF-7	breast:
30	chr14:68657619..68661211-chr14:68772709..68775364,5	MCF-7	breast:
31	chr14:68657382..68663307-chr14:68771021..68776308,9	MCF-7	breast:
32	chr14:68771399..68773960-chr14:68910018..68913627,3	MCF-7	breast:
33	chr14:68772153..68774683-chr14:68933663..68935450,3	MCF-7	breast:
34	chr14:68756682..68758225-chr14:68773128..68775956,2	MCF-7	breast:
35	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
36	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
37	chr14:68773029..68777937-chr14:68858584..68866534,13	MCF-7	breast:
38	chr14:68406746..68408855-chr14:68770868..68773760,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10132889	0.91[CEU][hapmap];1.00[EUR][1000 genomes]
rs10136827	0.95[EUR][1000 genomes]
rs10136837	0.95[EUR][1000 genomes]
rs10146680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10147024	0.87[EUR][1000 genomes]
rs11844086	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11848477	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs12323708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12432392	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12432997	1.00[JPT][hapmap]
rs12433646	0.82[ASN][1000 genomes]
rs12434580	0.82[ASN][1000 genomes]
rs12435186	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12435229	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12435617	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12436418	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12437046	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17105381	1.00[EUR][1000 genomes]
rs17105397	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs17105407	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17105443	0.91[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17193284	0.91[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17755115	0.81[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs2104046	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28460083	0.95[EUR][1000 genomes]
rs28502384	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs28503524	0.95[EUR][1000 genomes]
rs34186721	0.91[ASN][1000 genomes]
rs35763290	0.99[EUR][1000 genomes]
rs3784098	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3784100	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3784103	0.97[ASN][1000 genomes]
rs3784105	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4083474	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4633645	0.91[ASN][1000 genomes]
rs55978801	0.95[EUR][1000 genomes]
rs61623658	0.89[EUR][1000 genomes]
rs7151372	0.82[ASN][1000 genomes]
rs7151587	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs8016350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323507	0.89[EUR][1000 genomes]
rs9944146	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9989140	0.95[EUR][1000 genomes]
rs9989153	0.91[CEU][hapmap];1.00[TSI][hapmap];0.95[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs911256	XPA	trans	brain	seeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68760400-68776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68760600-68773600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:68765000-68774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:68767600-68776400	Weak transcription	Left Ventricle	heart
5	chr14:68769000-68776400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68769200-68774000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:68769200-68774200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:68771400-68774200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:68771600-68773800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:68771800-68773800	Enhancers	Primary B cells from cord blood	blood
12	chr14:68771800-68773800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:68772000-68777800	Enhancers	Fetal Kidney	kidney
14	chr14:68772000-68788400	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:68772400-68774000	Enhancers	Pancreas	Pancrea
16	chr14:68772400-68775800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr14:68772400-68776000	Enhancers	Fetal Intestine Large	intestine
18	chr14:68772400-68776000	Enhancers	Fetal Intestine Small	intestine
19	chr14:68772600-68773800	Weak transcription	Placenta	Placenta
20	chr14:68772600-68776000	Enhancers	Liver	Liver
21	chr14:68772600-68777000	Enhancers	Fetal Lung	lung
22	chr14:68772600-68788000	Weak transcription	Lung	lung
23	chr14:68772800-68773800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:68773000-68774800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:68773000-68775000	Enhancers	HepG2	liver
26	chr14:68773000-68776200	Enhancers	Stomach Mucosa	stomach
27	chr14:68773000-68777000	Enhancers	Colon Smooth Muscle	Colon
28	chr14:68773000-68777000	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:68773200-68773800	Enhancers	Fetal Thymus	thymus
30	chr14:68773200-68774200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:68773400-68773600	Enhancers	Aorta	Aorta
32	chr14:68773400-68773800	Enhancers	Small Intestine	intestine
33	chr14:68773400-68773800	Flanking Active TSS	GM12878-XiMat	blood
34	chr14:68773400-68774000	Enhancers	Ovary	ovary
35	chr14:68773400-68774200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:68773400-68774200	Enhancers	Stomach Smooth Muscle	stomach
37	chr14:68773400-68774400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:68773400-68775200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:68773400-68776200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:68773400-68776600	Enhancers	Fetal Muscle Leg	muscle
41	chr14:68773400-68776600	Enhancers	Fetal Stomach	stomach

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