Variant report

Variant	rs1667600
Chromosome Location	chr2:74402277-74402278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr2:74402117-74402496	HEK293	kidney:	n/a	n/a
2	MAX	chr2:74402121-74402397	K562	blood:	n/a	n/a
3	SETDB1	chr2:74402057-74402640	U2OS	brain:	n/a	n/a
4	POLR2A	chr2:74402217-74402283	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:74402244-74402306	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:74402066-74402277	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:74402070-74402431	GM12891	blood:	n/a	n/a
8	POLR2A	chr2:74401978-74402674	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:74401998-74402403	GM12891	blood:	n/a	n/a
10	WRNIP1	chr2:74402149-74402618	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:74402072-74402475	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74377295..74379594-chr2:74401810..74404492,2	K562	blood:
2	chr2:74400907..74407799-chr2:74422654..74428562,23	MCF-7	breast:
3	chr2:74400885..74404326-chr2:74404532..74407906,5	MCF-7	breast:
4	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:

No data

Variant related genes	Relation type
MOB1A	TF binding region
ENSG00000065911	Chromatin interaction
ENSG00000114978	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1056528	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1095966	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1095967	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12469365	0.87[EUR][1000 genomes]
rs1667610	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1667627	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108163	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108165	0.87[EUR][1000 genomes]
rs4630794	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs702465	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828852	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs828860	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828861	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828875	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828887	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828891	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828893	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs844169	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs860455	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1667600	MOBK1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74375800-74403600	Weak transcription	Stomach Mucosa	stomach
2	chr2:74376000-74405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:74385000-74403600	Weak transcription	Psoas Muscle	Psoas
4	chr2:74390600-74405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:74395400-74404000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:74395400-74404200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:74395600-74403400	Weak transcription	NHEK	skin
8	chr2:74395800-74404000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:74396200-74403800	Weak transcription	Fetal Lung	lung
10	chr2:74396400-74404000	Weak transcription	Fetal Heart	heart
11	chr2:74396400-74404600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:74396600-74404000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:74397800-74404000	Weak transcription	Right Ventricle	heart
14	chr2:74397800-74404200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:74398000-74404000	Weak transcription	Brain Angular Gyrus	brain
16	chr2:74398000-74404000	Weak transcription	Brain Anterior Caudate	brain
17	chr2:74398000-74404000	Weak transcription	Colonic Mucosa	Colon
18	chr2:74398000-74404800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:74398000-74404800	Weak transcription	HSMMtube	muscle
20	chr2:74398000-74405000	Weak transcription	Aorta	Aorta
21	chr2:74398200-74403800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:74398400-74405200	Weak transcription	Gastric	stomach
23	chr2:74399000-74404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:74399000-74404200	Weak transcription	Fetal Stomach	stomach
25	chr2:74399400-74404000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:74399400-74404000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:74399400-74404000	Weak transcription	NHLF	lung
28	chr2:74399600-74403000	Weak transcription	Thymus	Thymus
29	chr2:74399600-74403400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:74399600-74403600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:74399600-74403800	Weak transcription	HMEC	breast
32	chr2:74399600-74404000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:74399600-74404000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:74399600-74404000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:74399600-74404000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:74399600-74404200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:74399600-74404200	Weak transcription	Fetal Intestine Large	intestine
38	chr2:74399600-74405000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:74399800-74403800	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:74399800-74403800	Weak transcription	Hela-S3	cervix
41	chr2:74399800-74404000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:74399800-74404000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:74399800-74404000	Weak transcription	Fetal Kidney	kidney
44	chr2:74399800-74404000	Weak transcription	HUVEC	blood vessel
45	chr2:74399800-74404200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:74399800-74404200	Weak transcription	Left Ventricle	heart
47	chr2:74399800-74404200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:74399800-74404400	Weak transcription	Brain Germinal Matrix	brain
49	chr2:74399800-74404800	Weak transcription	Placenta	Placenta
50	chr2:74400000-74402800	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links