Variant report

Variant	rs41304103
Chromosome Location	chr1:220170238-220170239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220170067..220172994-chr1:220191581..220193107,2	K562	blood:
2	chr1:220165101..220168556-chr1:220168858..220170933,3	K562	blood:
3	chr1:220168435..220171336-chr1:220322060..220324695,2	K562	blood:
4	chr1:220164810..220167759-chr1:220168424..220170636,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12134746	0.86[ASN][1000 genomes]
rs36122746	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41274788	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030752	0.86[ASN][1000 genomes]
rs5030754	0.86[ASN][1000 genomes]
rs6541124	0.93[ASN][1000 genomes]
rs6683340	1.00[ASN][1000 genomes]
rs6690630	0.86[ASN][1000 genomes]
rs7517173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 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	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
5	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
6	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:220157200-220177200	Weak transcription	Esophagus	oesophagus
8	chr1:220158200-220177200	Weak transcription	Right Ventricle	heart
9	chr1:220160800-220174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:220162000-220175600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:220164800-220173800	Strong transcription	HSMM	muscle
12	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:220165200-220173000	Strong transcription	Primary T cells from cord blood	blood
14	chr1:220165400-220170600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:220166000-220170600	Strong transcription	Brain Germinal Matrix	brain
17	chr1:220166000-220189200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:220166200-220173000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:220166200-220174600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr1:220166200-220175200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:220166200-220178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:220166200-220178200	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:220166200-220184400	Strong transcription	Fetal Thymus	thymus
25	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:220166400-220170800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:220166400-220175000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:220166400-220199800	Strong transcription	K562	blood
32	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:220166600-220170600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:220166600-220171600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:220166600-220175000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:220166600-220180800	Strong transcription	Placenta	Placenta
39	chr1:220166600-220185200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:220166600-220188400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:220166800-220199000	Strong transcription	Dnd41	blood
43	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:220167000-220170400	Strong transcription	NHEK	skin
45	chr1:220167000-220170800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:220167000-220181200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:220167200-220175200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:220167400-220171200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:220167400-220171600	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links