Variant report

Variant	rs7743130
Chromosome Location	chr6:53935005-53935006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1325833	0.84[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16884633	0.85[JPT][hapmap]
rs9283918	0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9296737	0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357786	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357788	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs9367551	0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9370259	0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9370261	0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9382281	0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9382282	0.86[AFR][1000 genomes]
rs9382285	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs9395902	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474729	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs991199	0.81[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv5307	chr6:53874118-53952230	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv7901	chr6:53914491-53981080	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv823691	chr6:53918427-53978766	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1025090	chr6:53924697-53936000	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
11	nsv436993	chr6:53924697-53937823	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
12	nsv436994	chr6:53924697-53937823	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
13	esv34853	chr6:53924697-53977449	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1809821	chr6:53926697-53935347	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
15	esv3471826	chr6:53926793-53936791	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
16	esv1839673	chr6:53927326-53939724	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
17	esv3446379	chr6:53927543-53935941	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
18	esv3471831	chr6:53927818-53935966	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
19	esv3357810	chr6:53927893-53935841	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
20	esv1830254	chr6:53928041-53935347	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
21	esv1845483	chr6:53928041-53935347	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
22	esv1810071	chr6:53928041-53936441	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
23	esv1831849	chr6:53928041-53936441	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
24	esv3471827	chr6:53928362-53935164	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
25	nsv511883	chr6:53928450-53935446	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
26	esv3471830	chr6:53928493-53935341	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
27	nsv511337	chr6:53928649-53936382	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
28	esv1835741	chr6:53928649-53939724	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
29	esv990236	chr6:53928709-53935895	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
30	nsv970716	chr6:53928721-53935137	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
31	esv1851557	chr6:53928757-53936441	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
32	esv1798367	chr6:53929484-53937823	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
33	nsv603117	chr6:53929484-53937823	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
34	nsv603118	chr6:53929484-53939724	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
35	nsv603119	chr6:53929484-53947087	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
36	nsv603120	chr6:53929484-53951857	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
37	nsv603121	chr6:53929484-53951990	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
38	nsv603127	chr6:53930541-53937823	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53921600-53936600	Weak transcription	Right Ventricle	heart
2	chr6:53924000-53935200	Weak transcription	Psoas Muscle	Psoas
3	chr6:53928000-53939000	Weak transcription	Left Ventricle	heart
4	chr6:53928600-53939000	Weak transcription	Fetal Heart	heart
5	chr6:53934800-53935200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:53934800-53935200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:53934800-53935200	Active TSS	Colonic Mucosa	Colon
8	chr6:53934800-53935200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr6:53934800-53935200	Enhancers	Esophagus	oesophagus
10	chr6:53934800-53935200	Active TSS	Fetal Kidney	kidney
11	chr6:53934800-53935200	Flanking Active TSS	Fetal Lung	lung
12	chr6:53934800-53935200	Enhancers	Pancreas	Pancrea
13	chr6:53934800-53935200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:53934800-53935200	Active TSS	Rectal Smooth Muscle	rectum
15	chr6:53934800-53935200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr6:53934800-53935200	Active TSS	Stomach Smooth Muscle	stomach
17	chr6:53934800-53935200	Active TSS	HUVEC	blood vessel
18	chr6:53934800-53935400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:53934800-53935400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:53934800-53935400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:53934800-53935400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:53934800-53935400	Active TSS	Aorta	Aorta
23	chr6:53934800-53935400	Flanking Active TSS	Liver	Liver
24	chr6:53934800-53935400	Enhancers	Brain Hippocampus Middle	brain
25	chr6:53934800-53935400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:53934800-53935400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr6:53934800-53935400	Active TSS	Right Atrium	heart
28	chr6:53934800-53935400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr6:53934800-53935400	Enhancers	Stomach Mucosa	stomach
30	chr6:53934800-53935400	Weak transcription	HSMM	muscle
31	chr6:53934800-53935400	Flanking Active TSS	Osteobl	bone
32	chr6:53935000-53935200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr6:53935000-53935200	Active TSS	Duodenum Mucosa	Duodenum
34	chr6:53935000-53935200	Enhancers	Fetal Stomach	stomach
35	chr6:53935000-53935200	Flanking Active TSS	Ovary	ovary
36	chr6:53935000-53935200	Flanking Active TSS	HepG2	liver
37	chr6:53935000-53935200	Flanking Active TSS	NHEK	skin
38	chr6:53935000-53935200	Active TSS	NHLF	lung
39	chr6:53935000-53935400	Flanking Active TSS	Colon Smooth Muscle	Colon

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