Variant report

Variant	rs16910
Chromosome Location	chr1:75202712-75202713
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:75202542-75202740	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
2	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:
3	chr1:75200664..75203474-chr1:76250808..76253106,2	K562	blood:

Variant related genes	Relation type
CRYZ	TF binding region
ENSG00000206620	Chromatin interaction
ENSG00000116791	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000162623	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11163178	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073318	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28801184	0.84[AFR][1000 genomes]
rs41289224	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650283	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091667	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60212353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61524157	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75199200-75203000	Weak transcription	Spleen	Spleen
2	chr1:75199400-75203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:75199400-75203000	Weak transcription	Lung	lung
4	chr1:75199400-75203400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:75199400-75203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:75199600-75203000	Weak transcription	Left Ventricle	heart
7	chr1:75199600-75203000	Weak transcription	Pancreas	Pancrea
8	chr1:75199600-75203200	Weak transcription	Esophagus	oesophagus
9	chr1:75199600-75203200	Weak transcription	Gastric	stomach
10	chr1:75199600-75206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:75199800-75207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:75200000-75202800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:75200000-75202800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:75200000-75202800	Weak transcription	Placenta	Placenta
15	chr1:75200000-75203000	Weak transcription	Thymus	Thymus
16	chr1:75200000-75203200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:75200200-75202800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:75200200-75202800	Weak transcription	Fetal Brain Male	brain
20	chr1:75200200-75202800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:75200200-75203000	Weak transcription	Brain Germinal Matrix	brain
22	chr1:75200200-75203000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:75200200-75203000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:75200200-75203200	Weak transcription	Aorta	Aorta
25	chr1:75200200-75203200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:75200200-75203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:75200200-75205200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:75200200-75217600	Weak transcription	Stomach Mucosa	stomach
29	chr1:75200400-75202800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:75200400-75202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:75200400-75202800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:75200400-75202800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:75200400-75202800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:75200400-75203000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:75200400-75203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:75200400-75203000	Weak transcription	Right Ventricle	heart
37	chr1:75200400-75203200	Weak transcription	Fetal Stomach	stomach
38	chr1:75200400-75203600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:75200400-75210600	Weak transcription	Colonic Mucosa	Colon
40	chr1:75200400-75218400	Weak transcription	Fetal Heart	heart
41	chr1:75200600-75202800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:75200600-75202800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:75200600-75202800	Weak transcription	Fetal Kidney	kidney
44	chr1:75200600-75203000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:75200600-75203000	Weak transcription	Small Intestine	intestine
46	chr1:75200800-75202800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:75200800-75202800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:75200800-75202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:75200800-75202800	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:75200800-75202800	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links