Variant report

Variant	rs273977
Chromosome Location	chr7:137617430-137617431
allele	A/G
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	TCF12	chr7:137617359-137618977	SK-N-SH	brain:	n/a	n/a
2	JUND	chr7:137617416-137618921	SK-N-SH	brain:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137617822-137617832 chr7:137618108-137618117 chr7:137618517-137618524
3	FOSL2	chr7:137617395-137618885	SK-N-SH	brain:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137617822-137617832 chr7:137618108-137618117 chr7:137618517-137618524
4	NFIC	chr7:137617417-137618946	SK-N-SH	brain:	n/a	n/a
5	MYC	chr7:137617366-137617958	NB4	blood:	n/a	n/a
6	PBX3	chr7:137617385-137618816	SK-N-SH	brain:	n/a	chr7:137618109-137618118
7	SMARCB1	chr7:137617325-137618930	K562	blood:	n/a	n/a
8	EP300	chr7:137617334-137618930	SK-N-SH	brain:	n/a	chr7:137618517-137618526 chr7:137617935-137617949
9	GATA3	chr7:137617343-137618973	SK-N-SH	brain:	n/a	chr7:137618345-137618361
10	GATA3	chr7:137617412-137618844	SK-N-SH	brain:	n/a	chr7:137618345-137618361
11	TCF12	chr7:137617304-137619036	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr7:137617304-137621222	K562	blood:	n/a	n/a
13	JUND	chr7:137617382-137618922	SK-N-SH	brain:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137617822-137617832 chr7:137618108-137618117 chr7:137618517-137618524

No.	Distal block	Cell Line	Cell type
1	chr7:137615597..137618364-chr7:137618491..137620760,2	K562	blood:
2	chr7:137601426..137603845-chr7:137616116..137618626,2	K562	blood:
3	chr7:137611909..137614588-chr7:137616790..137618864,2	K562	blood:
4	chr7:137612741..137614588-chr7:137616647..137618290,2	K562	blood:
5	chr7:137600305..137602461-chr7:137615591..137618449,2	MCF-7	breast:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs110595	0.89[ASN][1000 genomes]
rs112417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273973	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs273974	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273975	0.81[JPT][hapmap]
rs273976	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs273978	0.87[JPT][hapmap]
rs273979	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273980	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273981	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273983	0.87[JPT][hapmap]
rs273984	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273986	0.85[ASN][1000 genomes]
rs273987	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273989	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273990	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273992	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273994	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs273995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273998	0.86[JPT][hapmap]
rs274000	0.87[JPT][hapmap]
rs274001	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs274002	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs274003	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs274004	0.86[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs274005	0.81[JPT][hapmap]
rs274007	0.85[CEU][hapmap]
rs274008	0.81[JPT][hapmap]
rs274009	0.81[JPT][hapmap]
rs274010	0.81[JPT][hapmap]
rs7795277	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9886131	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer 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
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:137588800-137620200	Weak transcription	Dnd41	blood
3	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
5	chr7:137603200-137617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:137605200-137618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:137605800-137618400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:137606400-137619000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:137606600-137617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:137606600-137617600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:137611800-137618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:137612000-137617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:137612000-137618400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:137612600-137617600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:137612800-137618200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
19	chr7:137613000-137617600	Weak transcription	Esophagus	oesophagus
20	chr7:137613000-137617600	Weak transcription	Lung	lung
21	chr7:137613000-137617800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:137613000-137617800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:137613000-137617800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:137613000-137618000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:137613000-137618000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:137613000-137618400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:137613000-137618400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:137613000-137619200	Weak transcription	Thymus	Thymus
29	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:137613200-137617600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:137613200-137617600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:137613200-137618600	Weak transcription	Colonic Mucosa	Colon
33	chr7:137613200-137621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:137613400-137620200	Enhancers	Placenta	Placenta
35	chr7:137613600-137617600	Weak transcription	Fetal Stomach	stomach
36	chr7:137613600-137619000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:137613600-137620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:137613800-137617600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:137613800-137618000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:137614000-137617600	Weak transcription	Brain Substantia Nigra	brain
41	chr7:137614200-137617600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:137614200-137620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:137614800-137621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
47	chr7:137615200-137617600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:137615400-137618400	Weak transcription	Spleen	Spleen
49	chr7:137615400-137619200	Enhancers	NH-A	brain
50	chr7:137615400-137619400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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