Variant report

Variant	rs2152707
Chromosome Location	chr1:185261231-185261232
allele	A/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	chr1:185259842..185262154-chr1:185284844..185287411,3	MCF-7	breast:
2	chr1:185258824..185261316-chr1:185268874..185271497,2	MCF-7	breast:
3	chr1:185260699..185262971-chr1:185285077..185286832,2	MCF-7	breast:
4	chr1:185256140..185258488-chr1:185259752..185262450,2	MCF-7	breast:
5	chr1:185260365..185262791-chr1:185265217..185266838,2	MCF-7	breast:
6	chr1:185013678..185016083-chr1:185260446..185263445,2	K562	blood:
7	chr1:185256781..185259746-chr1:185259822..185261591,2	K562	blood:
8	chr1:185260837..185263424-chr1:185264314..185267191,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000121481	Chromatin interaction
ENSG00000273004	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10174	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10752947	0.84[ASN][1000 genomes]
rs10798002	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10798003	0.90[EUR][1000 genomes]
rs10798004	0.85[EUR][1000 genomes]
rs10798006	0.83[EUR][1000 genomes]
rs10911700	0.90[EUR][1000 genomes]
rs10911702	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911704	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10911707	0.81[EUR][1000 genomes]
rs10911708	0.81[EUR][1000 genomes]
rs12026391	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12041704	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12136040	0.90[EUR][1000 genomes]
rs1336753	0.84[EUR][1000 genomes]
rs17641003	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1889976	0.89[EUR][1000 genomes]
rs2095610	0.83[EUR][1000 genomes]
rs2281416	0.81[EUR][1000 genomes]
rs2378909	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2378910	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34611062	0.88[EUR][1000 genomes]
rs57977436	0.89[EUR][1000 genomes]
rs6682891	0.84[EUR][1000 genomes]
rs6685627	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687774	0.81[EUR][1000 genomes]
rs7123	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs726567	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7539575	0.89[EUR][1000 genomes]
rs7542721	0.89[EUR][1000 genomes]
rs883753	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs997283	0.80[EUR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2152707	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
3	chr1:185227800-185262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:185231000-185263400	Weak transcription	Fetal Kidney	kidney
5	chr1:185235000-185261800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:185235400-185265400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:185236600-185265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:185239600-185262000	Weak transcription	HSMMtube	muscle
9	chr1:185239800-185262000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:185239800-185263800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:185240000-185265800	Weak transcription	Fetal Lung	lung
12	chr1:185240200-185267200	Weak transcription	Gastric	stomach
13	chr1:185240400-185268800	Weak transcription	Aorta	Aorta
14	chr1:185240800-185273000	Weak transcription	Spleen	Spleen
15	chr1:185241600-185261800	Weak transcription	Fetal Brain Female	brain
16	chr1:185242000-185262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:185244000-185261400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:185244800-185264800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:185245400-185268800	Weak transcription	Esophagus	oesophagus
20	chr1:185245800-185261600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:185245800-185268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:185245800-185273000	Weak transcription	Right Ventricle	heart
23	chr1:185246200-185261600	Weak transcription	Lung	lung
24	chr1:185246800-185265600	Weak transcription	NHLF	lung
25	chr1:185247600-185267800	Weak transcription	Fetal Stomach	stomach
26	chr1:185248000-185261800	Weak transcription	Brain Angular Gyrus	brain
27	chr1:185248200-185266800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:185248800-185265200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:185249000-185263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:185249200-185262600	Weak transcription	Osteobl	bone
31	chr1:185249200-185263000	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:185249200-185265800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:185250200-185264000	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:185250200-185265400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:185250400-185265600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:185250600-185263000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:185250600-185263800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:185250800-185261800	Weak transcription	Right Atrium	heart
39	chr1:185251200-185263200	Weak transcription	Liver	Liver
40	chr1:185251200-185263200	Weak transcription	Dnd41	blood
41	chr1:185251200-185263600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:185251200-185263600	Weak transcription	A549	lung
43	chr1:185251200-185264400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:185251200-185265600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:185251200-185266400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:185251600-185263000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:185252000-185266000	Weak transcription	Thymus	Thymus
48	chr1:185253200-185263200	Weak transcription	NHEK	skin
49	chr1:185254000-185264000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:185254200-185263600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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