Variant report

Variant	rs6851488
Chromosome Location	chr4:6987412-6987413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:6987387-6990610	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr4:6986599-6987557	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6987057..6988717-chr4:7023046..7025909,2	K562	blood:
2	chr4:6909306..6913096-chr4:6986692..6990153,8	K562	blood:
3	chr4:6987263..6989293-chr4:7068529..7070966,2	MCF-7	breast:
4	chr4:6985775..6987930-chr4:7003466..7005254,2	MCF-7	breast:
5	chr4:6909371..6913138-chr4:6987040..6991863,16	MCF-7	breast:
6	chr4:6987138..6988665-chr4:7067357..7069281,2	MCF-7	breast:
7	chr4:6909040..6912883-chr4:6987028..6993211,15	MCF-7	breast:
8	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
9	chr4:6979186..6983074-chr4:6985701..6987912,3	K562	blood:
10	chr4:6909508..6912885-chr4:6987339..6990016,5	K562	blood:

No data

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000132405	Chromatin interaction
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1048009	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11546450	0.80[ASW][hapmap];0.90[CEU][hapmap];0.88[TSI][hapmap]
rs28384174	1.00[ASN][1000 genomes]
rs28729690	1.00[ASN][1000 genomes]
rs41410847	0.88[GIH][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs55633489	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55659111	0.82[EUR][1000 genomes]
rs55672215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740475	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55833486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913461	0.82[EUR][1000 genomes]
rs55942328	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56031152	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074877	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56081162	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094305	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56097119	0.87[EUR][1000 genomes]
rs56178503	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56300156	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320732	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350643	0.82[EUR][1000 genomes]
rs56400338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56903115	1.00[ASN][1000 genomes]
rs57454756	1.00[ASN][1000 genomes]
rs59683609	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59742225	1.00[ASN][1000 genomes]
rs59809420	1.00[ASN][1000 genomes]
rs60048916	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66519732	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66573146	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611116	1.00[ASN][1000 genomes]
rs66645969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66712119	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66734745	1.00[ASN][1000 genomes]
rs66808450	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66819208	1.00[ASN][1000 genomes]
rs66905212	1.00[ASN][1000 genomes]
rs66978412	0.82[AFR][1000 genomes]
rs67067921	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67245546	1.00[ASN][1000 genomes]
rs67252699	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67315413	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67321746	1.00[ASN][1000 genomes]
rs67405518	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67702333	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67750430	1.00[ASN][1000 genomes]
rs67922134	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67998004	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68111914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812391	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6812771	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68169399	1.00[ASN][1000 genomes]
rs6832482	0.90[CEU][hapmap]
rs6838042	0.85[MEX][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838250	0.85[MEX][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841389	0.82[EUR][1000 genomes]
rs6855531	1.00[ASN][1000 genomes]
rs73088528	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73088564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73199995	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73202120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202122	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668802	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675281	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686168	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686186	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942188	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
2	chr4:6968000-6987600	Weak transcription	HSMM	muscle
3	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:6976200-6987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:6976400-6987800	Weak transcription	Fetal Thymus	thymus
6	chr4:6976600-6987600	Weak transcription	Thymus	Thymus
7	chr4:6985000-6987800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:6985000-6987800	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:6985200-6987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:6985200-6987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:6985400-6987600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:6985400-6987600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:6985600-6987600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:6985600-6987600	Enhancers	Adipose Nuclei	Adipose
15	chr4:6985600-6987600	Enhancers	Fetal Intestine Large	intestine
16	chr4:6985800-6987600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr4:6985800-6987800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:6986000-6987600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:6986000-6987600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr4:6986000-6987600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:6986000-6987600	Enhancers	Fetal Heart	heart
22	chr4:6986000-6987800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:6986000-6987800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:6986000-6988000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr4:6986200-6987600	Enhancers	Primary T cells from cord blood	blood
26	chr4:6986200-6987600	Weak transcription	Aorta	Aorta
27	chr4:6986200-6987600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr4:6986200-6987800	Weak transcription	Esophagus	oesophagus
29	chr4:6986400-6987600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:6986400-6987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:6986400-6987600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:6986400-6987600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:6986400-6987600	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr4:6986400-6987600	Enhancers	NHDF-Ad	bronchial
35	chr4:6986400-6987800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:6986400-6987800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr4:6986400-6988000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:6986600-6987600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr4:6986600-6987800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:6986600-6987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:6986600-6987800	Weak transcription	Ovary	ovary
42	chr4:6986600-6987800	Enhancers	Stomach Mucosa	stomach
43	chr4:6986600-6988000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:6986600-6988000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr4:6986800-6987600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:6986800-6987600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:6986800-6987600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:6986800-6987600	Weak transcription	Colonic Mucosa	Colon
49	chr4:6986800-6987600	Enhancers	Colon Smooth Muscle	Colon
50	chr4:6986800-6987600	Enhancers	Fetal Lung	lung

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