Variant report

Variant	rs71327340
Chromosome Location	chr22:29600139-29600140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr22:29599643-29600581	GM12878	blood:	n/a	n/a
2	EBF1	chr22:29599825-29600930	GM12878	blood:	n/a	chr22:29600601-29600610 chr22:29600599-29600612 chr22:29600600-29600611 chr22:29600600-29600610 chr22:29600601-29600610
3	CUX1	chr22:29598332-29600332	GM12878	blood:	n/a	n/a
4	TBP	chr22:29599630-29601290	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:29599562-29605938	PBDE	blood:	n/a	n/a
6	GATA1	chr22:29599489-29600342	PBDE	blood:	n/a	n/a
7	EBF1	chr22:29599729-29601175	GM12878	blood:	n/a	chr22:29600601-29600610 chr22:29600599-29600612 chr22:29600600-29600611 chr22:29600600-29600610 chr22:29600601-29600610
8	STAT5A	chr22:29599776-29600342	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:29597149-29601230	GM12878	blood:	n/a	n/a
10	EBF1	chr22:29599765-29600909	GM12878	blood:	n/a	chr22:29600601-29600610 chr22:29600599-29600612 chr22:29600600-29600611 chr22:29600600-29600610 chr22:29600601-29600610
11	POLR2A	chr22:29597600-29600699	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29600139-29600189	MCF10A-Er-Src	breast:	n/a
2	chr22:29600139-29600189	GM12891	blood:	n/a
3	chr22:29600139-29600189	AG04449	skin:	fetal
4	chr22:29600139-29600189	MCF-7	breast:	n/a
5	chr22:29600139-29600189	NHDF-neo	bronchial:	n/a
6	chr22:29600139-29600189	HEK293	kidney:	embryo
7	chr22:29600139-29600189	HCM	heart:	n/a
8	chr22:29600139-29600189	GM12892	blood:	n/a
9	chr22:29600139-29600189	K562	blood:	n/a
10	chr22:29600139-29600189	HAEpiC	amniotic membrane:	n/a
11	chr22:29600139-29600189	ovcar-3	ovarian:	n/a
12	chr22:29600139-29600189	HPAEpiC	pulmonary alveolar:	n/a
13	chr22:29600139-29600189	HIPEpiC	eye:	n/a
14	chr22:29600139-29600189	RPTEC	kidney:	n/a
15	chr22:29600139-29600189	ProgFib	skin:	n/a
16	chr22:29600139-29600189	HL-60	blood:	n/a
17	chr22:29600139-29600189	Hepatocyte	liver:	n/a
18	chr22:29600139-29600189	PFSK-1	brain:	n/a
19	chr22:29600139-29600189	GM19239	blood:	n/a
20	chr22:29600139-29600189	NH-A	brain:	n/a
21	chr22:29600139-29600189	Hela-S3	cervix:	n/a
22	chr22:29600139-29600189	Jurkat	blood:	n/a
23	chr22:29600139-29600189	PrEC	prostate:	n/a
24	chr22:29600139-29600189	NB4	blood:	n/a
25	chr22:29600139-29600189	HRCEpiC	kidney:	n/a
26	chr22:29600139-29600189	A549	lung:	n/a
27	chr22:29600139-29600189	HCT-116	colon:	n/a
28	chr22:29600139-29600189	PANC-1	pancreas:	n/a
29	chr22:29600139-29600189	HUVEC	blood vessel:	n/a
30	chr22:29600139-29600189	HCF	heart:	n/a
31	chr22:29600139-29600189	SKMC	muscle:	n/a
32	chr22:29600139-29600189	AG10803	skin:	n/a
33	chr22:29600139-29600189	HRE	kidney:	n/a
34	chr22:29600139-29600189	HMEC	breast:	n/a
35	chr22:29600139-29600189	U87	brain:	n/a
36	chr22:29600139-29600189	T-47D	breast:	n/a
37	chr22:29600139-29600189	BE2_C	brain:	n/a
38	chr22:29600139-29600189	SK-N-SH_RA	brain:	n/a
39	chr22:29600139-29600189	CMK	blood:	n/a
40	chr22:29600139-29600189	AG09319	gingival:	n/a
41	chr22:29600139-29600189	NT2-D1	testis:	n/a
42	chr22:29600139-29600189	SK-N-MC	brain:	n/a
43	chr22:29600139-29600189	GM12878	blood:	n/a
44	chr22:29600139-29600189	HNPCEpiC	eye:	n/a
45	chr22:29600139-29600189	HepG2	liver:	n/a
46	chr22:29600139-29600189	SAEC	small airway:	n/a
47	chr22:29600139-29600189	HEEpiC	esophagus:	n/a
48	chr22:29600139-29600189	LNCaP	prostate:	n/a
49	chr22:29600139-29600189	NHBE	bronchial:	n/a
50	chr22:29600139-29600189	H1-hESC	embryonic stem cell:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29598167..29600634-chr22:29663372..29666044,2	K562	blood:
2	chr22:29289372..29291896-chr22:29597783..29600686,2	MCF-7	breast:
3	chr22:29599772..29601516-chr22:29662820..29665325,2	K562	blood:

No data

Variant related genes	Relation type
EMID1	TF binding region
EMID1	CpG island
ENSG00000100263	Chromatin interaction
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1012458	0.83[EUR][1000 genomes]
rs13054918	1.00[EUR][1000 genomes]
rs13055209	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16987108	1.00[AFR][1000 genomes]
rs16987164	1.00[AFR][1000 genomes]
rs34319220	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35369066	1.00[EUR][1000 genomes]
rs61751700	1.00[AFR][1000 genomes]
rs71327339	0.83[EUR][1000 genomes]
rs71327341	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29594800-29600800	Weak transcription	Pancreas	Pancrea
2	chr22:29596400-29601600	Enhancers	Spleen	Spleen
3	chr22:29597000-29601000	Enhancers	Primary hematopoietic stem cells	blood
4	chr22:29597000-29601400	Enhancers	Fetal Thymus	thymus
5	chr22:29597800-29600200	Enhancers	Fetal Muscle Leg	muscle
6	chr22:29597800-29601000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29597800-29601400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr22:29597800-29601800	Flanking Active TSS	Dnd41	blood
9	chr22:29598200-29600400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:29598200-29600600	Enhancers	Thymus	Thymus
11	chr22:29598200-29600800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:29598400-29601600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:29598800-29600800	Enhancers	Duodenum Mucosa	Duodenum
14	chr22:29598800-29601000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:29598800-29601400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:29598800-29602000	Weak transcription	Brain Angular Gyrus	brain
17	chr22:29599000-29600200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:29599000-29600200	Weak transcription	Fetal Brain Female	brain
19	chr22:29599000-29600400	Weak transcription	Fetal Kidney	kidney
20	chr22:29599000-29600600	Weak transcription	Right Ventricle	heart
21	chr22:29599000-29600800	Weak transcription	Colonic Mucosa	Colon
22	chr22:29599000-29601000	Weak transcription	Adipose Nuclei	Adipose
23	chr22:29599000-29601200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:29599000-29601200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr22:29599000-29601400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr22:29599000-29601400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:29599000-29601400	Weak transcription	Liver	Liver
28	chr22:29599000-29601400	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:29599000-29601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:29599000-29601400	Weak transcription	Lung	lung
31	chr22:29599000-29601400	Weak transcription	NH-A	brain
32	chr22:29599000-29601600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:29599000-29601600	Weak transcription	Esophagus	oesophagus
34	chr22:29599000-29601600	Weak transcription	Left Ventricle	heart
35	chr22:29599000-29601600	Weak transcription	Right Atrium	heart
36	chr22:29599200-29600200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:29599200-29600600	Weak transcription	Fetal Stomach	stomach
38	chr22:29599200-29601000	Weak transcription	Fetal Intestine Large	intestine
39	chr22:29599200-29601000	Weak transcription	Placenta	Placenta
40	chr22:29599200-29601200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:29599200-29601400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29599200-29602200	Weak transcription	Small Intestine	intestine
43	chr22:29599400-29600200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr22:29599400-29600200	Enhancers	GM12878-XiMat	blood
45	chr22:29599400-29600400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:29599400-29600400	Enhancers	K562	blood
47	chr22:29599400-29600600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr22:29599400-29601000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr22:29599400-29601000	Weak transcription	Fetal Lung	lung
50	chr22:29599400-29601200	Weak transcription	Stomach Smooth Muscle	stomach

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