Variant report

Variant	rs55954760
Chromosome Location	chr1:150704215-150704216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10305657	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305693	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10305698	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10305702	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10305725	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10305728	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10305740	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10305741	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10305751	0.81[EUR][1000 genomes]
rs41266595	1.00[AMR][1000 genomes]
rs41266603	1.00[AMR][1000 genomes]
rs41266901	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41266927	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41272021	1.00[AMR][1000 genomes]
rs41272023	1.00[AMR][1000 genomes]
rs55772167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6660291	0.88[EUR][1000 genomes]
rs6672493	0.88[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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv872419	chr1:150699199-150738759	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150697200-150704400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:150697600-150705000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:150698600-150704400	Weak transcription	Lung	lung
4	chr1:150701000-150706000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:150701400-150704400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:150701400-150704400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:150701400-150707600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:150701400-150708000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:150701400-150710000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:150701400-150727400	Weak transcription	Left Ventricle	heart
11	chr1:150701600-150704800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:150701800-150710400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:150702400-150704600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:150702400-150707600	Weak transcription	Liver	Liver
15	chr1:150702400-150716200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:150702600-150715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:150702600-150716200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:150702600-150716200	Strong transcription	Primary B cells from cord blood	blood
19	chr1:150702600-150716200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:150702800-150705000	Weak transcription	Fetal Thymus	thymus
21	chr1:150702800-150716200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:150703000-150704400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:150703000-150706600	Weak transcription	Spleen	Spleen
24	chr1:150703200-150704400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:150703200-150704400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:150703200-150705200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:150703200-150709000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:150703200-150713200	Weak transcription	Fetal Intestine Small	intestine
29	chr1:150703800-150717200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:150704000-150711600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:150704000-150715800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:150704000-150716200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:150704000-150716200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:150704000-150736600	Weak transcription	Fetal Stomach	stomach
35	chr1:150704200-150706200	Strong transcription	GM12878-XiMat	blood
36	chr1:150704200-150716200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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