Variant report

Variant	rs34064731
Chromosome Location	chr1:223181583-223181584
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	chr1:223174781..223178345-chr1:223180899..223184230,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72744122	1.00[ASN][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223169000-223184000	Weak transcription	HSMM	muscle
2	chr1:223169000-223184200	Weak transcription	HSMMtube	muscle
3	chr1:223169000-223187600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:223170200-223183000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:223170200-223184200	Weak transcription	NH-A	brain
6	chr1:223175200-223184200	Weak transcription	Colonic Mucosa	Colon
7	chr1:223175200-223189800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:223175600-223184000	Weak transcription	Stomach Mucosa	stomach
9	chr1:223176000-223184200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:223176400-223181600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:223176800-223183800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:223176800-223184200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:223177200-223184600	Weak transcription	Psoas Muscle	Psoas
14	chr1:223177200-223189800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:223177800-223182000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:223177800-223182000	Weak transcription	Fetal Brain Male	brain
17	chr1:223177800-223184200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:223178000-223181800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:223178000-223182800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:223178000-223184200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:223178000-223184600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:223178200-223182400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:223178200-223183000	Weak transcription	Brain Anterior Caudate	brain
24	chr1:223178200-223184600	Weak transcription	Brain Angular Gyrus	brain
25	chr1:223178200-223184600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:223178600-223181600	Weak transcription	Primary B cells from cord blood	blood
27	chr1:223178600-223182800	Weak transcription	Ovary	ovary
28	chr1:223178600-223184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:223178800-223181800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:223178800-223182000	Weak transcription	Pancreas	Pancrea
31	chr1:223178800-223182200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:223178800-223182600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:223178800-223182600	Weak transcription	Brain Germinal Matrix	brain
34	chr1:223178800-223184200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:223178800-223184400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:223178800-223184600	Weak transcription	Aorta	Aorta
37	chr1:223178800-223184600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:223178800-223186800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:223178800-223189600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:223178800-223191400	Weak transcription	Right Atrium	heart
41	chr1:223178800-223194600	Weak transcription	Gastric	stomach
42	chr1:223179000-223182200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:223179000-223182400	Weak transcription	Fetal Intestine Small	intestine
44	chr1:223179000-223184600	Weak transcription	Left Ventricle	heart
45	chr1:223179000-223184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:223179000-223189800	Weak transcription	Right Ventricle	heart
47	chr1:223179000-223190200	Weak transcription	Adipose Nuclei	Adipose
48	chr1:223179200-223182600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:223179200-223183600	Weak transcription	Fetal Stomach	stomach
50	chr1:223179200-223189800	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links