Variant report

Variant	rs7742030
Chromosome Location	chr6:44065062-44065063
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:44064707..44066979-chr6:44078095..44080647,3	MCF-7	breast:
2	chr6:44063788..44067397-chr6:44214255..44217581,5	MCF-7	breast:
3	chr6:44059285..44062949-chr6:44063714..44068721,8	K562	blood:
4	chr6:44064123..44065127-chr6:44205409..44206132,3	K562	blood:
5	chr6:44064630..44065296-chr6:44118242..44118763,2	K562	blood:
6	chr6:44064352..44066624-chr6:44094843..44096793,3	K562	blood:
7	chr6:44064487..44065451-chr6:44119305..44119965,4	K562	blood:
8	chr6:44064173..44065096-chr6:44201605..44202510,3	K562	blood:
9	chr6:44063271..44067340-chr6:44221821..44225276,4	MCF-7	breast:
10	chr6:44064262..44065098-chr6:44201682..44202313,3	MCF-7	breast:
11	chr6:44064455..44066858-chr6:44120767..44125089,3	MCF-7	breast:
12	chr6:44026454..44027963-chr6:44063940..44066196,2	K562	blood:
13	chr6:44064491..44067269-chr6:44068919..44074061,5	MCF-7	breast:
14	chr6:44064502..44065068-chr6:44205526..44206089,2	MCF-7	breast:
15	chr6:44064308..44065554-chr6:44205339..44206301,3	MCF-7	breast:
16	chr6:44063799..44065316-chr6:44213671..44216377,2	MCF-7	breast:
17	chr6:44064116..44065383-chr6:44119168..44120496,12	MCF-7	breast:
18	chr6:44063441..44066080-chr6:44220225..44222286,2	K562	blood:
19	chr6:44063516..44066397-chr6:44271609..44273554,2	K562	blood:
20	chr6:44064110..44066569-chr6:44222530..44225900,6	K562	blood:
21	chr6:44064723..44067197-chr6:44214028..44217115,4	K562	blood:
22	chr6:44064144..44068096-chr6:44213556..44216776,6	K562	blood:
23	chr6:44064536..44066199-chr6:44223382..44226796,3	MCF-7	breast:
24	chr6:44063761..44065519-chr6:44068411..44070135,2	K562	blood:
25	chr6:44064146..44065473-chr6:44305968..44306588,4	K562	blood:
26	chr6:44064908..44068117-chr6:44068233..44072672,4	MCF-7	breast:
27	chr6:44047147..44049384-chr6:44064492..44067747,3	K562	blood:
28	chr6:44064372..44068377-chr6:44222364..44225900,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137216	Chromatin interaction
ENSG00000265700	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000157593	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2096199	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4610558	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55934950	0.85[ASN][1000 genomes]
rs56168551	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57139546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57576544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59842359	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60105057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60207481	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs66629131	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6935537	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73429745	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7742824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752653	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755223	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7773700	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7742030	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44044200-44067000	Weak transcription	NHDF-Ad	bronchial
2	chr6:44044600-44067600	Weak transcription	Spleen	Spleen
3	chr6:44044800-44067000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:44044800-44067400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:44044800-44070200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:44045000-44067400	Weak transcription	Brain Anterior Caudate	brain
8	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
9	chr6:44045600-44067000	Weak transcription	Fetal Brain Female	brain
10	chr6:44047000-44066600	Weak transcription	Thymus	Thymus
11	chr6:44047400-44067200	Weak transcription	Dnd41	blood
12	chr6:44047400-44067400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:44047400-44067600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:44047400-44069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:44049400-44067000	Weak transcription	GM12878-XiMat	blood
17	chr6:44051600-44067400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:44052600-44067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:44052600-44071000	Weak transcription	HSMMtube	muscle
20	chr6:44052800-44067000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:44052800-44067400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:44052800-44071000	Weak transcription	Placenta	Placenta
23	chr6:44052800-44071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:44053000-44067000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:44053000-44067000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:44053000-44070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:44054800-44067400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:44055000-44068000	Weak transcription	Esophagus	oesophagus
29	chr6:44055200-44067600	Weak transcription	Fetal Lung	lung
30	chr6:44055200-44068000	Weak transcription	Gastric	stomach
31	chr6:44055200-44068000	Weak transcription	Right Atrium	heart
32	chr6:44055400-44067000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:44055400-44067200	Weak transcription	A549	lung
34	chr6:44055400-44067400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:44055400-44067400	Weak transcription	HSMM	muscle
36	chr6:44055400-44067600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:44055400-44067800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:44055400-44067800	Weak transcription	Osteobl	bone
39	chr6:44055400-44068000	Weak transcription	Left Ventricle	heart
40	chr6:44055400-44069800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:44055400-44071400	Weak transcription	HMEC	breast
42	chr6:44055400-44071800	Weak transcription	Psoas Muscle	Psoas
43	chr6:44055600-44066000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:44055600-44067000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:44055600-44072200	Weak transcription	NH-A	brain
46	chr6:44055800-44067000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:44055800-44071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:44055800-44076000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:44055800-44078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:44056200-44078400	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links