Variant report

Variant	rs56756222
Chromosome Location	chr1:168199255-168199256
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:167793662..167795685-chr1:168199063..168200981,2	K562	blood:
2	chr1:168195252..168197130-chr1:168197550..168199276,3	K562	blood:
3	chr1:168199020..168201743-chr1:168203115..168205554,4	K562	blood:
4	chr1:168146036..168148362-chr1:168198222..168201923,3	K562	blood:
5	chr1:168198263..168200678-chr1:168201261..168204651,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213064	Chromatin interaction
ENSG00000143155	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16860424	1.00[AMR][1000 genomes]
rs34885709	1.00[AMR][1000 genomes]
rs73031924	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031973	1.00[AMR][1000 genomes]
rs73033959	1.00[AMR][1000 genomes]
rs73033962	1.00[AMR][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	nsv1003128	chr1:168073433-168215219	Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv535195	chr1:168073433-168215219	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv872526	chr1:168142489-168238710	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr1:168196000-168200200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:168196000-168201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:168196000-168211800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:168196200-168201400	Weak transcription	Right Ventricle	heart
5	chr1:168196200-168201800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:168196200-168205800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:168196200-168211600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:168196600-168199400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:168196600-168199600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:168196600-168200400	Enhancers	HepG2	liver
11	chr1:168196600-168205000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:168196800-168199600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:168196800-168200400	Weak transcription	Colonic Mucosa	Colon
14	chr1:168196800-168200600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:168196800-168205200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:168197200-168200000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:168197200-168200200	Weak transcription	Fetal Brain Female	brain
18	chr1:168197200-168200400	Weak transcription	Brain Germinal Matrix	brain
19	chr1:168197200-168204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:168197400-168200200	Weak transcription	NHLF	lung
21	chr1:168197400-168200400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:168197400-168200600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:168197400-168200600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:168197400-168212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:168197400-168217400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:168197600-168200200	Weak transcription	Aorta	Aorta
27	chr1:168197600-168201600	Weak transcription	Stomach Mucosa	stomach
28	chr1:168197600-168201600	Weak transcription	NHDF-Ad	bronchial
29	chr1:168197600-168215200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:168197800-168199600	Genic enhancers	Dnd41	blood
31	chr1:168198000-168200200	Enhancers	Right Atrium	heart
32	chr1:168198000-168200600	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr1:168198200-168199800	Enhancers	Psoas Muscle	Psoas
34	chr1:168198200-168200200	Enhancers	Pancreas	Pancrea
35	chr1:168198200-168200600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:168198200-168200800	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr1:168198200-168201000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:168198200-168210000	Strong transcription	HSMM	muscle
39	chr1:168198200-168212600	Weak transcription	Fetal Heart	heart
40	chr1:168198400-168199400	Enhancers	Gastric	stomach
41	chr1:168198400-168199600	Enhancers	HMEC	breast
42	chr1:168198400-168199600	Enhancers	Osteobl	bone
43	chr1:168198400-168199800	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr1:168198400-168199800	Strong transcription	K562	blood
45	chr1:168198400-168200000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:168198400-168200200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:168198400-168200600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:168198400-168200800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:168198400-168201400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:168198400-168201600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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