Variant report

Variant	rs273975
Chromosome Location	chr7:137615234-137615235
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	PBX3	chr7:137615217-137615920	SK-N-SH	brain:	n/a	n/a
2	RFX5	chr7:137615005-137616013	SK-N-SH	brain:	n/a	n/a
3	FOSL2	chr7:137614992-137615945	SK-N-SH	brain:	n/a	chr7:137615074-137615083
4	GATA3	chr7:137615181-137616024	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr7:137615092-137615899	SK-N-SH	brain:	n/a	n/a
6	NR3C1	chr7:137615222-137615601	A549	lung:	n/a	chr7:137615280-137615294 chr7:137615278-137615295
7	RFX5	chr7:137614886-137615974	IMR90	lung:	n/a	n/a
8	POLR2A	chr7:137615041-137615824	IMR90	lung:	n/a	n/a
9	TCF12	chr7:137615146-137615982	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr7:137615184-137615977	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr7:137615078-137616002	SK-N-SH	brain:	n/a	n/a
12	EP300	chr7:137615187-137615990	SK-N-SH	brain:	n/a	chr7:137615302-137615316 chr7:137615678-137615692 chr7:137615674-137615688
13	PBX3	chr7:137615205-137615811	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:137615157-137615827	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CREB3L2	TF binding region

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs110595	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs112417	0.81[JPT][hapmap]
rs273972	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs273977	0.81[JPT][hapmap]
rs273978	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs273979	0.85[CHB][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs273980	0.85[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs273981	0.81[JPT][hapmap]
rs273983	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs273984	0.81[JPT][hapmap]
rs273985	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs273986	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs273987	0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs273988	0.81[JPT][hapmap]
rs273989	0.81[JPT][hapmap]
rs273990	0.81[JPT][hapmap]
rs273991	0.86[JPT][hapmap]
rs273992	0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs273994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs273995	0.81[JPT][hapmap]
rs273998	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs273999	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs274000	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs274001	0.83[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap]
rs274002	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs274003	0.86[JPT][hapmap]
rs274004	0.81[JPT][hapmap]
rs274005	0.92[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap]
rs274008	0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs274009	0.92[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs274010	0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs274012	1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs274015	0.83[ASN][1000 genomes]
rs9886131	0.92[CHB][hapmap];0.85[JPT][hapmap]

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	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
4	nsv5964	chr7:137599451-137616300	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
2	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:137588800-137620200	Weak transcription	Dnd41	blood
4	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
6	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
7	chr7:137603200-137617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:137605200-137618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:137605800-137618400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:137606400-137619000	Weak transcription	Primary T cells from cord blood	blood
11	chr7:137606600-137617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:137606600-137617600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:137610800-137617200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:137611000-137617400	Weak transcription	Fetal Heart	heart
15	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:137611600-137616800	Weak transcription	Fetal Kidney	kidney
17	chr7:137611600-137617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:137611800-137618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:137612000-137617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:137612000-137618400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:137612600-137617200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:137612600-137617600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:137612800-137618200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
26	chr7:137613000-137617400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:137613000-137617400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:137613000-137617400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:137613000-137617400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:137613000-137617400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:137613000-137617600	Weak transcription	Esophagus	oesophagus
32	chr7:137613000-137617600	Weak transcription	Lung	lung
33	chr7:137613000-137617800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:137613000-137617800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:137613000-137617800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:137613000-137618000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:137613000-137618000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:137613000-137618400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:137613000-137618400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:137613000-137619200	Weak transcription	Thymus	Thymus
41	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:137613200-137617200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:137613200-137617200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:137613200-137617200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:137613200-137617200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:137613200-137617200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:137613200-137617400	Weak transcription	Brain Angular Gyrus	brain
48	chr7:137613200-137617400	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:137613200-137617600	Weak transcription	Brain Anterior Caudate	brain
50	chr7:137613200-137617600	Weak transcription	Fetal Muscle Trunk	muscle

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