Variant report

Variant	rs17151983
Chromosome Location	chr7:127946108-127946109
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	chr7:127946081-127946423	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:127946088-127946315	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:127945512-127946419	K562	blood:	n/a	n/a
4	POLR2A	chr7:127945508-127946971	K562	blood:	n/a	n/a
5	POLR2A	chr7:127946025-127946354	K562	blood:	n/a	n/a
6	POLR2A	chr7:127945168-127946823	K562	blood:	n/a	n/a
7	POLR2A	chr7:127946006-127946551	GM12892	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM28-3	chr7:127937738-127947816	NONHSAT123178
2	lnc-RBM28-3	chr7:127944240-127946359	NONHSAT123179

Variant related genes	Relation type
ENSG00000242261	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11069	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17151981	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs17151987	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151996	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17152000	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152002	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17152005	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2402890	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41281728	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41281731	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55667068	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913412	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56007906	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56177738	0.93[AFR][1000 genomes]
rs6467170	0.98[EUR][1000 genomes]
rs6467174	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6952533	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980001	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980301	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723627	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228315	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73230631	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230632	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230633	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230649	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230652	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230654	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230656	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230657	0.98[EUR][1000 genomes]
rs73230659	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721355	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721356	0.98[AFR][1000 genomes]
rs73721362	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721363	0.93[AFR][1000 genomes]
rs73721364	0.93[AFR][1000 genomes]
rs7800186	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7804796	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016669	chr7:127927963-127948122	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017782	chr7:127928249-127946901	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019036	chr7:127928441-127948122	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018630	chr7:127928441-127948604	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2764054	chr7:127928453-127948604	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv525319	chr7:127929271-127946173	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv971544	chr7:127945398-127950330	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
2	chr7:127930800-127949200	Weak transcription	Fetal Kidney	kidney
3	chr7:127939400-127946200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:127939400-127962800	Weak transcription	Right Atrium	heart
5	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
6	chr7:127940000-127946600	Weak transcription	Fetal Heart	heart
7	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr7:127940200-127953000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:127940200-127953800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:127940200-127955600	Strong transcription	Fetal Stomach	stomach
11	chr7:127940400-127946200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:127940400-127955400	Strong transcription	Aorta	Aorta
13	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr7:127940600-127946200	Weak transcription	HepG2	liver
15	chr7:127940600-127980000	Strong transcription	Liver	Liver
16	chr7:127940800-127946400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:127940800-127955200	Strong transcription	Fetal Intestine Small	intestine
18	chr7:127940800-127955400	Strong transcription	Lung	lung
19	chr7:127940800-127963800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
21	chr7:127941000-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:127941000-127960400	Strong transcription	Primary T cells from cord blood	blood
23	chr7:127941400-127946200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:127941400-127947400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:127941400-127955400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:127941400-127963400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:127941600-127979600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:127941800-127946600	Weak transcription	NH-A	brain
30	chr7:127941800-127949800	Weak transcription	Small Intestine	intestine
31	chr7:127941800-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:127941800-127955600	Strong transcription	Thymus	Thymus
33	chr7:127942000-127948800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:127942600-127979600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:127942800-127948400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:127943000-127961400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:127943000-127964800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:127943000-127969000	Strong transcription	Primary B cells from cord blood	blood
41	chr7:127943000-127979800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:127943000-127979800	Strong transcription	Fetal Intestine Large	intestine
43	chr7:127943000-127981200	Strong transcription	Dnd41	blood
44	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:127943200-127946200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:127943200-127947000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:127943200-127947200	Strong transcription	Hela-S3	cervix
48	chr7:127943200-127947400	Strong transcription	Spleen	Spleen
49	chr7:127943200-127947400	Strong transcription	NHLF	lung
50	chr7:127943200-127948800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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