Variant report

Variant	rs72994055
Chromosome Location	chr1:151198599-151198600
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	1:151180715-151199990..1:151402394-151411623	GM12878	blood:

Variant related genes	Relation type
ENSG00000238711	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11577302	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11584388	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12739135	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12743210	0.83[AFR][1000 genomes]
rs16865250	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35118469	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36035148	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151172800-151204400	Weak transcription	Stomach Mucosa	stomach
2	chr1:151173200-151199600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:151173200-151200000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:151173200-151212000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151173200-151227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:151173600-151210600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:151174000-151199400	Weak transcription	Small Intestine	intestine
8	chr1:151174200-151200600	Weak transcription	Pancreas	Pancrea
9	chr1:151174400-151203800	Weak transcription	Fetal Brain Male	brain
10	chr1:151175800-151199800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:151175800-151200400	Weak transcription	Aorta	Aorta
12	chr1:151176200-151200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:151178200-151223400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:151180200-151199800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:151180800-151199800	Weak transcription	Esophagus	oesophagus
16	chr1:151180800-151206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:151181200-151200200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:151181200-151203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151182400-151199600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:151183400-151199800	Weak transcription	Brain Angular Gyrus	brain
21	chr1:151185000-151199400	Weak transcription	HMEC	breast
22	chr1:151185800-151200400	Weak transcription	Psoas Muscle	Psoas
23	chr1:151186000-151199800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:151186200-151199400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:151186200-151200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:151186200-151200400	Weak transcription	Fetal Kidney	kidney
27	chr1:151186800-151210000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:151189400-151200400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:151189600-151223600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:151190000-151199800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:151190000-151206600	Strong transcription	Fetal Intestine Small	intestine
32	chr1:151190400-151223200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:151190400-151223400	Strong transcription	Fetal Thymus	thymus
34	chr1:151191400-151201400	Strong transcription	Fetal Intestine Large	intestine
35	chr1:151191800-151223000	Strong transcription	Fetal Stomach	stomach
36	chr1:151193400-151223000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:151193600-151199400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:151193600-151199400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:151194200-151200800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:151194400-151199400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:151194400-151223600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:151194600-151208800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:151194800-151199600	Weak transcription	HSMM	muscle
44	chr1:151194800-151210000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:151195000-151199800	Weak transcription	HSMMtube	muscle
46	chr1:151195000-151209000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:151195000-151223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:151195200-151199800	Weak transcription	Brain Substantia Nigra	brain
49	chr1:151195200-151227200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr1:151195400-151199800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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