Variant report

Variant	rs6467170
Chromosome Location	chr7:127945168-127945169
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	chr7:127945168-127946823	K562	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: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11069	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151983	0.98[EUR][1000 genomes]
rs17151987	0.98[EUR][1000 genomes]
rs17151996	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152000	0.98[EUR][1000 genomes]
rs17152002	0.98[EUR][1000 genomes]
rs2402890	0.98[EUR][1000 genomes]
rs41281728	0.98[EUR][1000 genomes]
rs41281731	0.98[EUR][1000 genomes]
rs55667068	0.98[EUR][1000 genomes]
rs55913412	0.98[EUR][1000 genomes]
rs56007906	0.98[EUR][1000 genomes]
rs6467174	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6952533	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6980001	0.96[EUR][1000 genomes]
rs6980301	0.98[EUR][1000 genomes]
rs723627	0.98[EUR][1000 genomes]
rs73228315	0.81[EUR][1000 genomes]
rs73230631	0.98[EUR][1000 genomes]
rs73230632	0.98[EUR][1000 genomes]
rs73230633	0.98[EUR][1000 genomes]
rs73230642	0.98[EUR][1000 genomes]
rs73230649	0.98[EUR][1000 genomes]
rs73230652	0.98[EUR][1000 genomes]
rs73230654	0.98[EUR][1000 genomes]
rs73230656	0.98[EUR][1000 genomes]
rs73230657	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230659	0.98[EUR][1000 genomes]
rs73721355	0.98[EUR][1000 genomes]
rs73721362	0.98[EUR][1000 genomes]
rs7800186	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7804796	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:127920200-127945200	Weak transcription	Right Ventricle	heart
3	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
4	chr7:127930800-127949200	Weak transcription	Fetal Kidney	kidney
5	chr7:127938600-127945800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:127938800-127946000	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:127939400-127945400	Weak transcription	Esophagus	oesophagus
8	chr7:127939400-127946200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:127939400-127962800	Weak transcription	Right Atrium	heart
10	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
11	chr7:127940000-127946600	Weak transcription	Fetal Heart	heart
12	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:127940200-127953000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:127940200-127953800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:127940200-127955600	Strong transcription	Fetal Stomach	stomach
16	chr7:127940400-127945400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:127940400-127946200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:127940400-127955400	Strong transcription	Aorta	Aorta
19	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr7:127940600-127946200	Weak transcription	HepG2	liver
21	chr7:127940600-127980000	Strong transcription	Liver	Liver
22	chr7:127940800-127946000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:127940800-127946400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:127940800-127955200	Strong transcription	Fetal Intestine Small	intestine
25	chr7:127940800-127955400	Strong transcription	Lung	lung
26	chr7:127940800-127963800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
28	chr7:127941000-127946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:127941000-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:127941000-127960400	Strong transcription	Primary T cells from cord blood	blood
31	chr7:127941200-127945600	Weak transcription	Brain Germinal Matrix	brain
32	chr7:127941400-127945600	Weak transcription	NHEK	skin
33	chr7:127941400-127946200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:127941400-127947400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:127941400-127955400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:127941400-127963400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:127941600-127945200	Weak transcription	GM12878-XiMat	blood
38	chr7:127941600-127945600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:127941600-127979600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:127941800-127946600	Weak transcription	NH-A	brain
42	chr7:127941800-127949800	Weak transcription	Small Intestine	intestine
43	chr7:127941800-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:127941800-127955600	Strong transcription	Thymus	Thymus
45	chr7:127942000-127946000	Weak transcription	HUVEC	blood vessel
46	chr7:127942000-127948800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:127942400-127945800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:127942600-127946000	Weak transcription	Muscle Satellite Cultured Cells	--

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