Variant report

Variant	rs6433395
Chromosome Location	chr2:173943880-173943881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173941095..173943931-chr2:174073550..174075773,3	MCF-7	breast:
2	chr2:173942302..173944887-chr2:173980344..173983035,2	K562	blood:
3	chr2:173924576..173926125-chr2:173943190..173944804,2	K562	blood:
4	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12986917	0.90[CHB][hapmap];0.91[ASN][1000 genomes]
rs12987496	0.91[CHB][hapmap];0.92[ASN][1000 genomes]
rs12989116	0.91[CHB][hapmap];0.91[ASN][1000 genomes]
rs12997078	0.83[ASN][1000 genomes]
rs13004212	0.92[ASN][1000 genomes]
rs13017210	0.83[ASN][1000 genomes]
rs13020796	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13022800	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029949	0.84[CEU][hapmap];0.90[CHB][hapmap]
rs13032010	0.92[CHB][hapmap]
rs16861272	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16861278	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap]
rs17302977	0.90[CHB][hapmap];0.91[ASN][1000 genomes]
rs17761169	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs2278883	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[YRI][hapmap];0.86[ASN][1000 genomes]
rs2289397	0.83[CHB][hapmap]
rs2289399	0.90[CHB][hapmap]
rs34014656	0.86[ASN][1000 genomes]
rs34472765	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34658268	0.82[ASN][1000 genomes]
rs34681024	0.90[ASN][1000 genomes]
rs34702663	0.91[ASN][1000 genomes]
rs35250703	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36102078	0.92[ASN][1000 genomes]
rs36103648	0.81[ASN][1000 genomes]
rs3754741	0.90[CHB][hapmap]
rs3754743	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs3754744	0.90[CHB][hapmap]
rs3769161	0.81[CHB][hapmap]
rs3769167	0.91[CHB][hapmap]
rs3769187	0.92[CHB][hapmap]
rs3769192	0.90[CHB][hapmap]
rs3769194	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs3769199	0.89[ASN][1000 genomes]
rs3769203	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972533	0.90[CHB][hapmap]
rs56193548	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56342397	0.91[ASN][1000 genomes]
rs6741675	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67422536	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67683956	0.82[ASN][1000 genomes]
rs72905046	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72905080	0.92[ASN][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	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173947200	Weak transcription	Gastric	stomach
2	chr2:173941600-173955200	Weak transcription	Lung	lung
3	chr2:173941600-173955200	Weak transcription	Pancreas	Pancrea
4	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
5	chr2:173941800-173955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:173941800-173955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173942000-173944400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:173942000-173945000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:173942000-173946600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:173942000-173951400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:173942000-173953000	Weak transcription	Stomach Mucosa	stomach
12	chr2:173942000-173955200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:173942000-173955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:173942000-173956000	Weak transcription	Fetal Thymus	thymus
15	chr2:173942200-173946200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:173942600-173944000	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr2:173942600-173944200	Enhancers	Fetal Stomach	stomach
18	chr2:173942600-173956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:173942800-173944000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:173942800-173944000	Enhancers	Fetal Intestine Small	intestine
21	chr2:173942800-173944000	Enhancers	Fetal Lung	lung
22	chr2:173942800-173944800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:173942800-173944800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:173942800-173944800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:173942800-173946200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:173942800-173954800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:173942800-173955800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
29	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:173943000-173944000	Enhancers	Liver	Liver
31	chr2:173943000-173944000	Flanking Active TSS	NHDF-Ad	bronchial
32	chr2:173943000-173944200	Enhancers	Brain Germinal Matrix	brain
33	chr2:173943000-173944400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:173943000-173944400	Weak transcription	HSMM	muscle
35	chr2:173943000-173944600	Enhancers	Ovary	ovary
36	chr2:173943000-173944800	Enhancers	Psoas Muscle	Psoas
37	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
38	chr2:173943200-173944000	Enhancers	Fetal Heart	heart
39	chr2:173943200-173944000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:173943200-173944000	Genic enhancers	K562	blood
41	chr2:173943200-173944000	Genic enhancers	NHEK	skin
42	chr2:173943200-173945200	Enhancers	Right Atrium	heart
43	chr2:173943200-173945600	Enhancers	Hela-S3	cervix
44	chr2:173943200-173955000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:173943400-173944000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:173943400-173944000	Enhancers	Adipose Nuclei	Adipose
47	chr2:173943400-173944800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:173943400-173945000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:173943400-173945600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:173943400-173945600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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