Variant report

Variant	rs1127571
Chromosome Location	chr1:161135348-161135349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:161135317-161136363	K562	blood:	n/a	chr1:161135864-161135877
2	SP1	chr1:161135341-161136727	HCT-116	colon:	n/a	n/a
3	HCFC1	chr1:161135197-161137330	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:161134838-161136525	PFSK-1	brain:	n/a	n/a
5	CTCF	chr1:161135240-161135390	AG04450	lung:	n/a	n/a
6	PML	chr1:161135302-161136941	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:161134767-161137577	K562	blood:	n/a	n/a
8	POLR2A	chr1:161134943-161136740	K562	blood:	n/a	n/a
9	POLR2A	chr1:161134880-161137092	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:161135343-161136633	HUVEC	blood vessel:	n/a	n/a
11	TCF12	chr1:161135330-161136728	A549	lung:	n/a	n/a
12	POLR2A	chr1:161134825-161135355	HL-60	blood:	n/a	n/a
13	CTCF	chr1:161135334-161136211	MCF-7	breast:	n/a	chr1:161135864-161135877
14	POLR2A	chr1:161134954-161137237	PBDE	blood:	n/a	n/a
15	POLR2A	chr1:161134654-161137060	MCF10A-Er-Src	breast:	n/a	n/a
16	REST	chr1:161135344-161136959	H1-neurons	neurons:	n/a	chr1:161135846-161135854
17	POLR2A	chr1:161134747-161136646	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr1:161135156-161137337	IMR90	lung:	n/a	n/a
19	POLR2A	chr1:161135104-161136892	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA1	chr1:161134959-161137227	K562	blood:	n/a	chr1:161135055-161135065 chr1:161135693-161135703 chr1:161135759-161135768
21	FOSL2	chr1:161135280-161136615	A549	lung:	n/a	n/a
22	MXI1	chr1:161135310-161137378	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr1:161134823-161136817	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:161135327-161137239	H1-hESC	embryonic stem cell:	n/a	n/a
25	NR2F2	chr1:161135225-161137321	K562	blood:	n/a	n/a
26	POLR2A	chr1:161135131-161136490	SK-N-SH	brain:	n/a	n/a
27	SMARCA4	chr1:161135141-161136622	K562	blood:	n/a	n/a
28	POLR2A	chr1:161134746-161137344	K562	blood:	n/a	n/a
29	POLR2A	chr1:161135116-161136726	PFSK-1	brain:	n/a	n/a
30	MXI1	chr1:161135333-161137224	IMR90	lung:	n/a	n/a
31	MAZ	chr1:161135265-161137041	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161099668..161103758-chr1:161134918..161138367,5	MCF-7	breast:
2	chr1:161100027..161102916-chr1:161132751..161137101,5	K562	blood:
3	chr1:161086949..161089395-chr1:161134747..161137999,5	K562	blood:
4	chr1:161133675..161135632-chr20:45893847..45895708,2	MCF-7	breast:
5	chr1:161085942..161091087-chr1:161134747..161138869,10	K562	blood:
6	chr1:161040956..161045180-chr1:161134527..161136918,3	MCF-7	breast:
7	chr1:161133737..161136347-chr1:161193972..161196200,2	K562	blood:
8	chr1:161100027..161103465-chr1:161134887..161137955,5	K562	blood:
9	chr1:161086404..161089001-chr1:161134756..161136300,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPOX	TF binding region
ENSG00000143217	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158882	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11265559	1.00[LWK][hapmap]
rs11588796	1.00[CHB][hapmap]
rs12030747	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12134488	1.00[LWK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161129800-161135400	Weak transcription	Aorta	Aorta
2	chr1:161130000-161135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:161131200-161135400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:161132200-161135400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:161132200-161135400	Weak transcription	NHDF-Ad	bronchial
6	chr1:161132400-161135600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:161133400-161135600	Weak transcription	Small Intestine	intestine
8	chr1:161133800-161135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:161133800-161135400	Weak transcription	Fetal Kidney	kidney
10	chr1:161133800-161135400	Weak transcription	Ovary	ovary
11	chr1:161134000-161135600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:161134400-161135600	Weak transcription	Gastric	stomach
13	chr1:161134800-161135400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:161134800-161135400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:161134800-161135400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:161134800-161135400	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:161134800-161135400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:161134800-161135400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:161134800-161135400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:161134800-161135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:161134800-161135400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:161134800-161135400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:161134800-161135400	Genic enhancers	Brain Angular Gyrus	brain
24	chr1:161134800-161135400	Enhancers	Brain Substantia Nigra	brain
25	chr1:161134800-161135400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:161134800-161135400	Enhancers	Esophagus	oesophagus
27	chr1:161134800-161135400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:161134800-161135400	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr1:161134800-161135400	Genic enhancers	Fetal Thymus	thymus
30	chr1:161134800-161135400	Enhancers	Pancreas	Pancrea
31	chr1:161134800-161135400	Enhancers	Rectal Smooth Muscle	rectum
32	chr1:161134800-161135600	Enhancers	Fetal Heart	heart
33	chr1:161134800-161135800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:161134800-161135800	Transcr. at gene 5' and 3'	K562	blood
35	chr1:161135000-161135400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:161135000-161135400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr1:161135000-161135400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:161135000-161135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:161135000-161135400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:161135000-161135400	Enhancers	Primary B cells from cord blood	blood
41	chr1:161135000-161135400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:161135000-161135400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:161135000-161135400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:161135000-161135400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:161135000-161135400	Enhancers	Brain Anterior Caudate	brain
46	chr1:161135000-161135400	Genic enhancers	Brain Cingulate Gyrus	brain
47	chr1:161135000-161135400	Enhancers	Brain Hippocampus Middle	brain
48	chr1:161135000-161135400	Enhancers	Colon Smooth Muscle	Colon
49	chr1:161135000-161135400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr1:161135000-161135400	Genic enhancers	Fetal Stomach	stomach

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