Variant report

Variant	rs73733834
Chromosome Location	chr6:44090527-44090528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr6:44090470-44090982	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:44090490-44090936	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:44090179-44090671	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44088513..44090682-chr6:44214026..44216491,3	K562	blood:
2	chr6:44066604..44068973-chr6:44089400..44092003,2	MCF-7	breast:
3	chr6:31619702..31621666-chr6:44090307..44092403,2	K562	blood:
4	chr6:44088681..44090812-chr6:44355955..44357719,2	K562	blood:
5	chr6:44089402..44092816-chr6:44223805..44226741,4	K562	blood:
6	chr6:43736948..43738538-chr6:44089022..44091382,2	K562	blood:
7	chr6:44050736..44053615-chr6:44088297..44091106,2	K562	blood:
8	chr6:44088020..44090654-chr6:44213530..44217195,5	K562	blood:

No data

Variant related genes	Relation type
TMEM63B	TF binding region
ENSG00000272114	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000112715	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10428726	0.93[ASN][1000 genomes]
rs10807295	0.93[ASN][1000 genomes]
rs10948122	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10948123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10948125	0.93[ASN][1000 genomes]
rs10948126	0.93[ASN][1000 genomes]
rs11966587	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11967633	0.93[ASN][1000 genomes]
rs11968386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12525049	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12526662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12664793	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2096200	0.93[ASN][1000 genomes]
rs35738079	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs41282654	0.90[ASN][1000 genomes]
rs4711765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55862642	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59028814	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60245793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60691447	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6912142	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs700006	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs713050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738970	0.93[ASN][1000 genomes]
rs7771710	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:44081800-44093600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:44082000-44090800	Weak transcription	Spleen	Spleen
5	chr6:44082200-44093600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:44083200-44093800	Weak transcription	Fetal Brain Male	brain
7	chr6:44083600-44090800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:44083600-44092600	Enhancers	HMEC	breast
9	chr6:44083800-44093800	Enhancers	Stomach Mucosa	stomach
10	chr6:44084000-44093800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:44085200-44092800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:44085800-44093800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:44086600-44092000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:44087000-44093600	Enhancers	Liver	Liver
15	chr6:44087200-44092000	Enhancers	Fetal Lung	lung
16	chr6:44087200-44093600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr6:44087400-44090600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:44087400-44090600	Enhancers	NHLF	lung
19	chr6:44087400-44093800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:44087400-44094200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:44087800-44093000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:44087800-44093800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr6:44087800-44094000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:44088000-44090800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:44088000-44090800	Weak transcription	Right Atrium	heart
26	chr6:44088000-44093400	Weak transcription	Brain Angular Gyrus	brain
27	chr6:44088000-44094000	Weak transcription	Aorta	Aorta
28	chr6:44088000-44094000	Weak transcription	Esophagus	oesophagus
29	chr6:44088200-44090600	Genic enhancers	HepG2	liver
30	chr6:44088200-44090600	Weak transcription	NHDF-Ad	bronchial
31	chr6:44088200-44091000	Weak transcription	Fetal Brain Female	brain
32	chr6:44088200-44091200	Weak transcription	A549	lung
33	chr6:44088400-44090600	Weak transcription	Primary B cells from cord blood	blood
34	chr6:44088400-44091600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:44088400-44092000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:44088600-44091000	Weak transcription	Pancreas	Pancrea
37	chr6:44088600-44091600	Enhancers	Fetal Muscle Leg	muscle
38	chr6:44088600-44094000	Enhancers	Adipose Nuclei	Adipose
39	chr6:44089000-44090800	Enhancers	K562	blood
40	chr6:44089000-44091400	Weak transcription	Fetal Heart	heart
41	chr6:44089000-44092400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:44089200-44090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:44089200-44092000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:44089200-44092000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr6:44089200-44092000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:44089200-44092200	Enhancers	Fetal Thymus	thymus
47	chr6:44089200-44093800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr6:44089400-44090600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:44089400-44090600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:44089400-44090600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links