Variant report

Variant	rs7526021
Chromosome Location	chr1:227938415-227938416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227913557..227915723-chr1:227936561..227939351,2	K562	blood:
2	chr1:227923199..227926110-chr1:227936380..227938690,2	K562	blood:
3	chr1:227918805..227924684-chr1:227929963..227939883,12	K562	blood:
4	chr1:227933014..227936120-chr1:227936917..227939887,3	K562	blood:
5	chr1:227936020..227939973-chr1:227940260..227944026,6	K562	blood:
6	chr1:227921065..227923056-chr1:227937528..227939336,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081692	Chromatin interaction
ENSG00000230005	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10799448	0.86[ASN][1000 genomes]
rs10799449	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10916205	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916207	0.87[ASN][1000 genomes]
rs12138074	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17555357	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281708	0.87[ASN][1000 genomes]
rs2295994	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6672002	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6683757	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6683869	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6696944	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6697054	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
10	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7526021	C1orf142	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227924200-227940800	Weak transcription	HSMMtube	muscle
2	chr1:227924200-227941200	Weak transcription	HSMM	muscle
3	chr1:227924200-227941200	Weak transcription	NHDF-Ad	bronchial
4	chr1:227924200-227941600	Weak transcription	Osteobl	bone
5	chr1:227924200-227942000	Weak transcription	Hela-S3	cervix
6	chr1:227924200-227946800	Weak transcription	HUVEC	blood vessel
7	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:227924800-227941400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:227925000-227941400	Weak transcription	Fetal Brain Male	brain
10	chr1:227925200-227941200	Weak transcription	Psoas Muscle	Psoas
11	chr1:227925600-227941800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:227928600-227941200	Weak transcription	Small Intestine	intestine
13	chr1:227930200-227945600	Weak transcription	NH-A	brain
14	chr1:227930400-227939400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:227932800-227941400	Weak transcription	Stomach Mucosa	stomach
16	chr1:227932800-227947200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:227933000-227939400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:227933000-227946400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:227933800-227939000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:227934000-227938600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:227934000-227940200	Strong transcription	Thymus	Thymus
22	chr1:227934000-227941400	Strong transcription	Fetal Brain Female	brain
23	chr1:227934000-227948800	Strong transcription	Primary T cells from cord blood	blood
24	chr1:227934200-227945400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:227934400-227939600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:227934400-227950000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:227934600-227942600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:227934600-227942800	Strong transcription	Brain Germinal Matrix	brain
29	chr1:227934800-227941200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:227934800-227943200	Strong transcription	Fetal Intestine Large	intestine
31	chr1:227934800-227950200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:227934800-227950400	Strong transcription	Fetal Intestine Small	intestine
33	chr1:227935000-227938800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:227935000-227939200	Genic enhancers	Gastric	stomach
35	chr1:227935000-227939400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:227935000-227939400	Genic enhancers	Right Ventricle	heart
37	chr1:227935000-227939600	Strong transcription	NHLF	lung
38	chr1:227935000-227942600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:227935000-227949600	Strong transcription	Dnd41	blood
40	chr1:227935200-227949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:227935400-227938600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:227935400-227939000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:227935400-227939400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:227935400-227940400	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:227935400-227941800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:227935600-227939000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:227935600-227939200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:227935600-227939200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:227935600-227940800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:227935600-227942600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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