Variant report

Variant	rs72823968
Chromosome Location	chr6:4945342-4945343
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4944039..4945928-chr6:4949779..4951541,2	MCF-7	breast:
2	chr6:4944383..4946508-chr6:4950113..4952220,2	K562	blood:
3	chr6:4944508..4946496-chr6:4954900..4957778,2	K562	blood:
4	chr6:4938946..4941254-chr6:4944002..4946079,2	K562	blood:
5	chr6:4942124..4945364-chr6:4998095..5000781,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13219839	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17284610	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17356900	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35354768	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35924874	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55981530	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56006827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58567771	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66855133	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4933600-4950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4938000-4956400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:4941200-4949600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:4942200-4945400	Weak transcription	Fetal Brain Female	brain
5	chr6:4942200-4946000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:4942200-4948000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:4942200-4957200	Strong transcription	Fetal Intestine Small	intestine
8	chr6:4942400-4956800	Weak transcription	Small Intestine	intestine
9	chr6:4942600-4953800	Weak transcription	Dnd41	blood
10	chr6:4942600-4956200	Strong transcription	Primary B cells from cord blood	blood
11	chr6:4942800-4946000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:4942800-4946600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:4942800-4948600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:4942800-4951200	Weak transcription	Stomach Mucosa	stomach
15	chr6:4942800-4956600	Strong transcription	Primary T cells from cord blood	blood
16	chr6:4943000-4954600	Weak transcription	Fetal Kidney	kidney
17	chr6:4943200-4945800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:4943200-4945800	Strong transcription	K562	blood
19	chr6:4943200-4947800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:4943200-4948400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:4943200-4954000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:4943200-4955800	Weak transcription	Brain Substantia Nigra	brain
23	chr6:4943200-4956000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:4943200-4956800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:4943400-4945600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:4943400-4945800	Weak transcription	Ovary	ovary
27	chr6:4943400-4946600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:4943400-4946800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:4943400-4948800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:4943400-4953800	Weak transcription	NH-A	brain
31	chr6:4943400-4954200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:4943400-4956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:4943400-4956200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:4943400-4956200	Weak transcription	HUVEC	blood vessel
35	chr6:4943400-4957800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:4943600-4945600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:4943600-4945600	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:4943600-4946400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:4943600-4948000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr6:4943600-4950800	Strong transcription	GM12878-XiMat	blood
41	chr6:4943600-4954000	Weak transcription	HMEC	breast
42	chr6:4943600-4955600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr6:4943600-4955600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr6:4943600-4959600	Weak transcription	NHDF-Ad	bronchial
45	chr6:4943600-4970000	Weak transcription	Psoas Muscle	Psoas
46	chr6:4943800-4948800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:4943800-4951000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:4943800-4953000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:4943800-4954000	Weak transcription	HSMM	muscle
50	chr6:4943800-4956600	Strong transcription	Fetal Muscle Trunk	muscle

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