Variant report

Variant	rs41420744
Chromosome Location	chr16:31342728-31342729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31341937..31343785-chr16:31345527..31347045,2	K562	blood:
2	chr16:31340966..31343264-chr16:31454013..31455624,2	MCF-7	breast:
3	chr16:31308392..31310591-chr16:31341817..31344039,2	K562	blood:
4	chr16:31342392..31343986-chr16:31347244..31349142,2	MCF-7	breast:
5	chr16:31190368..31193316-chr16:31342467..31345225,2	K562	blood:
6	chr16:31331494..31335412-chr16:31342610..31345111,3	K562	blood:
7	chr16:31118693..31121313-chr16:31341607..31344535,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252809	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000103507	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34231527	1.00[AMR][1000 genomes]
rs41465245	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41468344	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45466094	1.00[AMR][1000 genomes]
rs56809455	1.00[AMR][1000 genomes]
rs58372645	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59932244	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184483	1.00[AMR][1000 genomes]
rs7196958	1.00[AMR][1000 genomes]
rs74015511	1.00[AMR][1000 genomes]
rs74018303	0.91[AFR][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	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31323000-31344600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:31341200-31343200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:31341400-31343400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
4	chr16:31341800-31343200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr16:31341800-31343200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:31342000-31342800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:31342000-31343400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr16:31342000-31343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:31342200-31343000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr16:31342200-31343200	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr16:31342200-31343200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr16:31342400-31342800	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr16:31342400-31342800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
14	chr16:31342400-31342800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:31342400-31342800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:31342400-31342800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:31342400-31342800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:31342400-31342800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:31342400-31342800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:31342400-31342800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr16:31342400-31342800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr16:31342400-31342800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr16:31342400-31342800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
24	chr16:31342400-31343000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr16:31342400-31343000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr16:31342400-31343000	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr16:31342400-31343000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr16:31342400-31343000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:31342400-31343000	Bivalent/Poised TSS	Colonic Mucosa	Colon
30	chr16:31342400-31343000	Bivalent/Poised TSS	Fetal Thymus	thymus
31	chr16:31342400-31343200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr16:31342400-31343200	Active TSS	Primary T cells from cord blood	blood
33	chr16:31342400-31343200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr16:31342400-31343200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr16:31342400-31343200	Active TSS	Right Ventricle	heart
36	chr16:31342400-31343200	Genic enhancers	Spleen	Spleen
37	chr16:31342400-31343200	Active TSS	A549	lung
38	chr16:31342400-31343400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr16:31342400-31343400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr16:31342400-31343400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr16:31342600-31342800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:31342600-31342800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:31342600-31342800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:31342600-31342800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr16:31342600-31342800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
46	chr16:31342600-31342800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr16:31342600-31342800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr16:31342600-31342800	Bivalent Enhancer	Placenta	Placenta
49	chr16:31342600-31342800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr16:31342600-31342800	Flanking Bivalent TSS/Enh	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links