Variant report

Variant	rs4916387
Chromosome Location	chr1:171461089-171461090
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	chr1:171460506-171461878	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171458362..171461090-chr1:171478088..171481055,2	K562	blood:
2	chr1:171454578..171456452-chr1:171458968..171461203,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL425P	TF binding region
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10753138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913136	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913141	1.00[YRI][hapmap]
rs10913165	0.94[ASN][1000 genomes]
rs11589384	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12025905	1.00[YRI][hapmap]
rs12078309	0.88[ASN][1000 genomes]
rs12079162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12239382	1.00[YRI][hapmap]
rs2207192	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2272810	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28831777	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736679	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817772	0.84[ASN][1000 genomes]
rs61814748	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6703132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7536723	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:171455600-171461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:171455800-171461600	Weak transcription	Gastric	stomach
3	chr1:171455800-171465400	Weak transcription	Lung	lung
4	chr1:171455800-171467800	Weak transcription	Spleen	Spleen
5	chr1:171456000-171481800	Weak transcription	Placenta	Placenta
6	chr1:171456200-171461600	Weak transcription	Left Ventricle	heart
7	chr1:171456200-171467800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:171456200-171475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:171456400-171461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:171456400-171462400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:171456400-171462400	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:171456400-171466000	Weak transcription	Fetal Intestine Small	intestine
13	chr1:171456400-171467200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:171456400-171467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:171456400-171468400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:171456400-171470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:171456400-171471200	Weak transcription	Thymus	Thymus
18	chr1:171456400-171473000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:171456400-171481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:171456400-171483600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:171456600-171461600	Weak transcription	Psoas Muscle	Psoas
22	chr1:171456600-171467000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:171456600-171469600	Weak transcription	Fetal Stomach	stomach
24	chr1:171456800-171464200	Weak transcription	Fetal Brain Male	brain
25	chr1:171456800-171474800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:171457000-171464000	Weak transcription	Fetal Kidney	kidney
27	chr1:171457000-171465800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:171457200-171462000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:171457200-171469000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:171457600-171462400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:171457600-171463600	Weak transcription	Brain Angular Gyrus	brain
32	chr1:171457600-171471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:171457800-171461400	Weak transcription	Right Atrium	heart
34	chr1:171457800-171461600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:171457800-171462000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:171457800-171462000	Strong transcription	Fetal Thymus	thymus
37	chr1:171457800-171463400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:171457800-171463600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:171457800-171463800	Weak transcription	Aorta	Aorta
40	chr1:171457800-171463800	Weak transcription	Esophagus	oesophagus
41	chr1:171457800-171464600	Enhancers	Primary T cells from cord blood	blood
42	chr1:171457800-171482000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:171457800-171482200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:171458000-171461400	Weak transcription	Ovary	ovary
45	chr1:171458000-171461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:171458000-171461600	Weak transcription	Right Ventricle	heart
47	chr1:171458000-171461600	Weak transcription	Small Intestine	intestine
48	chr1:171458000-171462400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:171458000-171462400	Weak transcription	NHLF	lung
50	chr1:171458000-171463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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