Variant report

Variant	rs36103648
Chromosome Location	chr2:173985747-173985748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173984313..173986145-chr2:174000208..174002832,2	K562	blood:
2	chr2:173985743..173988657-chr2:173992178..173994964,4	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10930579	0.85[ASN][1000 genomes]
rs12615166	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12986917	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12987496	0.88[ASN][1000 genomes]
rs12989116	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12990553	0.83[ASN][1000 genomes]
rs12997078	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12998711	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13004212	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13017210	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13017438	0.85[ASN][1000 genomes]
rs13020796	0.80[EUR][1000 genomes]
rs13029949	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13032010	0.91[ASN][1000 genomes]
rs16861272	0.81[ASN][1000 genomes]
rs17302977	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17761169	0.83[ASN][1000 genomes]
rs2076857	0.90[ASN][1000 genomes]
rs2278883	0.83[ASN][1000 genomes]
rs2289397	0.85[ASN][1000 genomes]
rs2289399	0.85[ASN][1000 genomes]
rs34014656	0.85[ASN][1000 genomes]
rs34472765	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34658268	0.81[ASN][1000 genomes]
rs34681024	0.89[ASN][1000 genomes]
rs34702663	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34862313	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35250703	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36102078	0.88[ASN][1000 genomes]
rs3754741	0.85[ASN][1000 genomes]
rs3754743	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3754744	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769157	0.82[ASN][1000 genomes]
rs3769161	0.86[ASN][1000 genomes]
rs3769167	0.85[ASN][1000 genomes]
rs3769187	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769192	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769194	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769199	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3769203	0.81[ASN][1000 genomes]
rs4972533	0.82[ASN][1000 genomes]
rs55913048	0.85[ASN][1000 genomes]
rs56151459	0.91[ASN][1000 genomes]
rs56193548	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56342397	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6433395	0.81[ASN][1000 genomes]
rs67422536	0.83[AFR][1000 genomes]
rs71417423	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72905080	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:173965000-173987400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:173965400-173987200	Weak transcription	Dnd41	blood
5	chr2:173965400-173989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:173968600-173990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:173969200-173987600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:173974800-173988600	Weak transcription	HSMM	muscle
10	chr2:173974800-173991400	Weak transcription	K562	blood
11	chr2:173978200-173995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:173980000-173985800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:173980600-173989200	Weak transcription	Esophagus	oesophagus
14	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
15	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
16	chr2:173983000-173985800	Enhancers	NH-A	brain
17	chr2:173983200-173986800	Enhancers	NHDF-Ad	bronchial
18	chr2:173983200-173987200	Enhancers	Psoas Muscle	Psoas
19	chr2:173983800-173986000	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:173983800-173986200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:173983800-173986600	Weak transcription	Fetal Intestine Large	intestine
22	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:173984400-173985800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:173984400-173985800	Weak transcription	A549	lung
25	chr2:173984400-173986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:173984400-173986200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:173984400-173986400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:173984400-173986800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:173984400-173989000	Weak transcription	Lung	lung
30	chr2:173984400-173989000	Weak transcription	Right Atrium	heart
31	chr2:173984400-173994200	Weak transcription	Gastric	stomach
32	chr2:173984400-173994600	Weak transcription	Pancreas	Pancrea
33	chr2:173984600-173989000	Weak transcription	Aorta	Aorta
34	chr2:173984600-173994800	Weak transcription	Liver	Liver
35	chr2:173984600-173995400	Weak transcription	Fetal Stomach	stomach
36	chr2:173984800-173986200	Genic enhancers	NHEK	skin
37	chr2:173984800-173987800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:173984800-173991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:173985000-173988600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:173985000-173989200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:173985200-173985800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:173985200-173985800	Weak transcription	NHLF	lung
43	chr2:173985200-173986000	Weak transcription	Right Ventricle	heart
44	chr2:173985200-173986800	Weak transcription	Fetal Heart	heart
45	chr2:173985200-173987400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:173985200-173987600	Weak transcription	HMEC	breast
47	chr2:173985200-173987800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:173985200-173995400	Weak transcription	Adipose Nuclei	Adipose
49	chr2:173985400-173986600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:173985400-173987200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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