Variant report

Variant	rs57416273
Chromosome Location	chr1:85839160-85839161
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85832497..85835404-chr1:85838453..85841129,2	K562	blood:
2	chr1:85836816..85838339-chr1:85838426..85841342,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs74096891	0.86[AFR][1000 genomes]
rs74096892	0.87[AFR][1000 genomes]
rs74096901	0.93[AFR][1000 genomes]
rs74098803	1.00[AFR][1000 genomes]
rs74098805	1.00[AFR][1000 genomes]
rs74098806	1.00[AFR][1000 genomes]
rs74098807	0.94[AFR][1000 genomes]
rs74098808	0.94[AFR][1000 genomes]
rs74098816	0.81[AFR][1000 genomes]
rs74098818	0.81[AFR][1000 genomes]
rs74098825	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
2	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
3	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85832800-85839600	Weak transcription	HMEC	breast
5	chr1:85834400-85839800	Weak transcription	Stomach Mucosa	stomach
6	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:85835800-85839800	Weak transcription	Right Ventricle	heart
9	chr1:85836000-85840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:85836600-85840400	Enhancers	Liver	Liver
11	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:85837000-85839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:85837000-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:85837200-85839400	Weak transcription	HepG2	liver
15	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:85837400-85840400	Enhancers	HSMM	muscle
17	chr1:85837800-85840000	Enhancers	Fetal Lung	lung
18	chr1:85837800-85840200	Enhancers	Fetal Stomach	stomach
19	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:85838000-85840200	Enhancers	NHLF	lung
21	chr1:85838200-85842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:85838400-85839200	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:85838400-85839400	Enhancers	Small Intestine	intestine
24	chr1:85838400-85839800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:85838400-85840000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:85838400-85840000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:85838400-85840000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:85838400-85840400	Enhancers	NHEK	skin
29	chr1:85838400-85840800	Enhancers	Fetal Kidney	kidney
30	chr1:85838400-85842800	Enhancers	HUVEC	blood vessel
31	chr1:85838600-85839400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:85838600-85840000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:85838600-85843400	Weak transcription	Fetal Brain Female	brain
34	chr1:85838800-85839200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:85838800-85839200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:85838800-85839200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:85838800-85839400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:85838800-85839400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:85838800-85839400	Weak transcription	Osteobl	bone
40	chr1:85838800-85839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:85838800-85840000	Enhancers	Hela-S3	cervix
42	chr1:85838800-85840200	Enhancers	HSMMtube	muscle
43	chr1:85838800-85842600	Enhancers	Colon Smooth Muscle	Colon
44	chr1:85839000-85839200	Enhancers	Brain Anterior Caudate	brain
45	chr1:85839000-85839200	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:85839000-85839200	Enhancers	Brain Substantia Nigra	brain
47	chr1:85839000-85839200	Enhancers	Psoas Muscle	Psoas
48	chr1:85839000-85839200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr1:85839000-85839400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:85839000-85839400	Bivalent Enhancer	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links