Variant report

Variant	rs127125
Chromosome Location	chr6:5133916-5133917
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	chr6:5132858-5134054	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
LYRM4	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs127124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs200863	0.90[ASN][1000 genomes]
rs364886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs385315	0.95[ASN][1000 genomes]
rs402541	0.82[ASN][1000 genomes]
rs412628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs423801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs435175	0.83[ASN][1000 genomes]
rs438298	0.81[ASN][1000 genomes]
rs445204	0.90[ASN][1000 genomes]
rs454984	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs455803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457846	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs461698	0.85[ASN][1000 genomes]
rs462749	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs464606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs464681	0.85[ASN][1000 genomes]
rs464863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466837	0.91[ASN][1000 genomes]
rs585956	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs585970	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs587777	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs683261	0.95[ASN][1000 genomes]
rs73717674	0.95[AFR][1000 genomes]
rs85204	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9606	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1017821	chr6:5114609-5213200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
12	nsv538114	chr6:5114609-5213200	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
13	nsv5179	chr6:5121824-5167027	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5126600-5134000	Weak transcription	NHEK	skin
2	chr6:5128800-5136200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:5129000-5136800	Weak transcription	Primary T cells from cord blood	blood
4	chr6:5129000-5162000	Weak transcription	K562	blood
5	chr6:5129800-5138000	Weak transcription	HepG2	liver
6	chr6:5130600-5140400	Weak transcription	Gastric	stomach
7	chr6:5130600-5172200	Weak transcription	Lung	lung
8	chr6:5130800-5139400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:5130800-5142400	Weak transcription	Fetal Intestine Small	intestine
10	chr6:5131000-5143000	Weak transcription	Spleen	Spleen
11	chr6:5131800-5134400	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:5131800-5135200	Weak transcription	Placenta	Placenta
13	chr6:5132000-5134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:5132000-5139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:5132200-5134400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr6:5132200-5134400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:5132600-5134600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:5133000-5134200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:5133000-5134400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr6:5133200-5141800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:5133400-5134000	Enhancers	Primary B cells from cord blood	blood
22	chr6:5133400-5134200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:5133400-5134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:5133400-5134400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:5133400-5134800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:5133400-5135200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:5133400-5136600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:5133400-5143200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:5133400-5143800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:5133400-5144000	Weak transcription	Fetal Brain Male	brain
31	chr6:5133400-5146000	Weak transcription	Psoas Muscle	Psoas
32	chr6:5133400-5151600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:5133600-5134000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:5133600-5134600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:5133600-5134600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:5133600-5136600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:5133600-5143400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:5133600-5143800	Weak transcription	Fetal Stomach	stomach
39	chr6:5133800-5134600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:5133800-5134600	Enhancers	Adipose Nuclei	Adipose
41	chr6:5133800-5136200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:5133800-5136200	Weak transcription	Brain Anterior Caudate	brain
43	chr6:5133800-5136200	Weak transcription	HUVEC	blood vessel
44	chr6:5133800-5139200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:5133800-5139400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:5133800-5140000	Weak transcription	GM12878-XiMat	blood
47	chr6:5133800-5140600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:5133800-5142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:5133800-5143000	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:5133800-5143400	Weak transcription	Left Ventricle	heart

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