Variant report

Variant	rs567498
Chromosome Location	chr1:184793404-184793405
allele	C/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	POLR2A	chr1:184790701-184794355	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184792419..184794231-chr1:184807595..184809855,2	K562	blood:

Variant related genes	Relation type
RNU7-13P	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16823603	0.82[JPT][hapmap]
rs16823613	0.82[JPT][hapmap]
rs338567	0.92[LWK][hapmap];1.00[YRI][hapmap]
rs338568	0.92[LWK][hapmap];1.00[YRI][hapmap]
rs538337	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs585186	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611814	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs644729	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs654913	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74132053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription 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 target site	13 gene(s)	inside rSNPs	diseases
5	nsv508677	chr1:184778620-184825302	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv946539	chr1:184793020-184794837	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:184772400-184801800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:184775600-184796800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:184775800-184794000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:184783000-184807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:184783200-184796400	Weak transcription	NHLF	lung
9	chr1:184783200-184796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:184783200-184796800	Weak transcription	NHDF-Ad	bronchial
11	chr1:184783200-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:184783400-184803200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:184784200-184794000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:184785400-184801200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:184786000-184797800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:184786600-184796000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:184786600-184805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:184786800-184793600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:184787400-184794200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr1:184787800-184796800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:184787800-184799000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:184788000-184797400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:184788200-184796200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:184788600-184796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:184789400-184793800	Genic enhancers	Fetal Muscle Leg	muscle
26	chr1:184789600-184793600	Genic enhancers	Colon Smooth Muscle	Colon
27	chr1:184789800-184802000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:184790200-184809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:184790400-184793600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:184790800-184793800	Genic enhancers	Fetal Heart	heart
31	chr1:184791000-184793800	Genic enhancers	Left Ventricle	heart
32	chr1:184791000-184795400	Enhancers	Psoas Muscle	Psoas
33	chr1:184791000-184797000	Enhancers	Right Atrium	heart
34	chr1:184791200-184793600	Weak transcription	Fetal Thymus	thymus
35	chr1:184791400-184795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:184791400-184795200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:184791600-184796800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:184791800-184796000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:184791800-184796800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:184792000-184793600	Genic enhancers	Rectal Smooth Muscle	rectum
41	chr1:184792200-184795200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:184792200-184795800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:184792200-184796400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:184792200-184796400	Weak transcription	Lung	lung
45	chr1:184792200-184799400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:184792200-184805200	Weak transcription	Fetal Intestine Small	intestine
47	chr1:184792400-184798600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:184792600-184793600	Weak transcription	Aorta	Aorta
49	chr1:184792600-184793600	Weak transcription	GM12878-XiMat	blood
50	chr1:184792600-184793800	Enhancers	Gastric	stomach

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