Variant report

Variant	rs4376137
Chromosome Location	chr4:6987394-6987395
allele	G/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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10937773	0.88[AFR][1000 genomes]
rs10937775	1.00[AMR][1000 genomes]
rs13143427	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35375288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234791	0.90[YRI][hapmap]
rs4234792	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327487	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4423873	0.87[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4544710	0.81[YRI][hapmap]
rs4689058	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs6446554	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs6446555	0.88[AFR][1000 genomes]
rs6446558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835187	1.00[AMR][1000 genomes]
rs6835407	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835568	0.95[AFR][1000 genomes]
rs7655773	0.91[YRI][hapmap]
rs7661952	0.93[YRI][hapmap]
rs7675524	0.88[LWK][hapmap];1.00[YRI][hapmap]
rs7689324	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9291126	0.86[YRI][hapmap]

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:113 , 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	chr4:6976600-6987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:6976600-6987600	Weak transcription	Thymus	Thymus
8	chr4:6985000-6987800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:6985000-6987800	Enhancers	Primary B cells from peripheral blood	blood
10	chr4:6985200-6987400	Enhancers	Liver	Liver
11	chr4:6985200-6987400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:6985200-6987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:6985200-6987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:6985400-6987600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:6985400-6987600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:6985600-6987600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:6985600-6987600	Enhancers	Adipose Nuclei	Adipose
18	chr4:6985600-6987600	Enhancers	Fetal Intestine Large	intestine
19	chr4:6985800-6987400	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:6985800-6987600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:6985800-6987800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:6986000-6987400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:6986000-6987400	Enhancers	Brain Substantia Nigra	brain
24	chr4:6986000-6987400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr4:6986000-6987400	Enhancers	HUVEC	blood vessel
26	chr4:6986000-6987600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr4:6986000-6987600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr4:6986000-6987600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:6986000-6987600	Enhancers	Fetal Heart	heart
30	chr4:6986000-6987800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr4:6986000-6987800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:6986000-6988000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr4:6986200-6987400	Enhancers	Fetal Intestine Small	intestine
34	chr4:6986200-6987600	Enhancers	Primary T cells from cord blood	blood
35	chr4:6986200-6987600	Weak transcription	Aorta	Aorta
36	chr4:6986200-6987600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr4:6986200-6987800	Weak transcription	Esophagus	oesophagus
38	chr4:6986400-6987400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:6986400-6987400	Flanking Active TSS	Fetal Brain Male	brain
40	chr4:6986400-6987600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:6986400-6987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:6986400-6987600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:6986400-6987600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr4:6986400-6987600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr4:6986400-6987600	Enhancers	NHDF-Ad	bronchial
46	chr4:6986400-6987800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:6986400-6987800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr4:6986400-6988000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:6986600-6987400	Enhancers	NHLF	lung
50	chr4:6986600-6987600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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