Variant report

Variant	rs2773307
Chromosome Location	chr6:5244290-5244291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5237216..5240073-chr6:5242175..5245334,3	K562	blood:
2	chr6:5244206..5246671-chr6:5260247..5262061,2	MCF-7	breast:
3	chr6:5244069..5246030-chr6:5250865..5252776,2	K562	blood:
4	chr6:5243071..5246983-chr6:5247269..5251044,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214113	Chromatin interaction
ENSG00000145982	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11752747	0.88[EUR][1000 genomes]
rs12174086	0.85[ASN][1000 genomes]
rs13191012	0.92[ASN][1000 genomes]
rs1570085	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1609808	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139985	0.97[ASN][1000 genomes]
rs1884976	0.82[ASN][1000 genomes]
rs2145372	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224391	0.98[ASN][1000 genomes]
rs2224392	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2753214	0.82[ASN][1000 genomes]
rs2753222	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2753223	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2753224	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2753228	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2753229	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2753230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2753233	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2753234	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2753235	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2753236	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2753237	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2753238	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2753239	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2753240	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2753243	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2753244	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2753245	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2753246	0.97[ASN][1000 genomes]
rs2753247	0.97[ASN][1000 genomes]
rs2753248	0.97[ASN][1000 genomes]
rs2753249	0.97[ASN][1000 genomes]
rs2753255	0.81[ASN][1000 genomes]
rs2773291	0.81[ASN][1000 genomes]
rs2773294	0.81[ASN][1000 genomes]
rs2773296	0.85[ASN][1000 genomes]
rs2773298	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2773299	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2773300	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2773302	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2773304	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773306	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2773308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2773309	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2773310	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773312	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773314	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773316	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773317	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773318	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773319	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2773320	0.97[ASN][1000 genomes]
rs2773322	0.97[ASN][1000 genomes]
rs35048711	0.91[ASN][1000 genomes]
rs36055504	0.92[ASN][1000 genomes]
rs4960073	0.80[ASN][1000 genomes]
rs6909619	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6913120	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6925249	0.97[ASN][1000 genomes]
rs766339	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766340	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752203	0.98[ASN][1000 genomes]
rs7758400	0.86[ASN][1000 genomes]
rs928170	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9328289	0.84[ASN][1000 genomes]
rs9378420	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9378943	0.85[ASN][1000 genomes]
rs9392665	0.94[ASN][1000 genomes]
rs9392666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9405259	0.83[ASN][1000 genomes]
rs9405260	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9405809	0.92[ASN][1000 genomes]
rs9405811	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9405813	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9504364	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9504365	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9504368	0.94[ASN][1000 genomes]
rs9504369	0.97[ASN][1000 genomes]
rs9504371	0.97[ASN][1000 genomes]
rs9784870	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong 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	8 gene(s)	inside rSNPs	diseases
11	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1016456	chr6:5216835-5315913	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv538117	chr6:5216835-5315913	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5206200-5246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:5208200-5259800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:5214600-5248800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:5214800-5248800	Weak transcription	A549	lung
5	chr6:5215000-5244800	Weak transcription	Gastric	stomach
6	chr6:5215000-5252600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:5215000-5257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:5215000-5259800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:5215200-5244800	Weak transcription	Left Ventricle	heart
10	chr6:5215200-5244800	Weak transcription	Right Ventricle	heart
11	chr6:5215400-5259800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:5215600-5251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:5215600-5254600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:5215600-5259800	Weak transcription	NHDF-Ad	bronchial
15	chr6:5215800-5251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:5216200-5251400	Weak transcription	Fetal Brain Female	brain
17	chr6:5216400-5259600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:5216600-5244800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:5216600-5259600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:5220000-5245600	Weak transcription	HMEC	breast
21	chr6:5220800-5259600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:5222400-5253800	Weak transcription	Dnd41	blood
23	chr6:5222800-5244800	Weak transcription	Primary B cells from cord blood	blood
24	chr6:5227800-5259800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:5230000-5245800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:5230200-5246400	Weak transcription	Fetal Lung	lung
27	chr6:5231000-5249400	Weak transcription	HSMMtube	muscle
28	chr6:5231000-5260200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:5231200-5249800	Weak transcription	HSMM	muscle
30	chr6:5231400-5245600	Weak transcription	NH-A	brain
31	chr6:5231400-5250000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:5231600-5249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:5231800-5259800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:5231800-5260000	Weak transcription	NHLF	lung
35	chr6:5231800-5260200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:5232000-5245000	Weak transcription	K562	blood
37	chr6:5232000-5259800	Weak transcription	HUVEC	blood vessel
38	chr6:5232000-5260200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:5232400-5260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:5232800-5253600	Weak transcription	Psoas Muscle	Psoas
41	chr6:5233000-5245000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:5233200-5244800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:5233200-5246800	Weak transcription	Brain Substantia Nigra	brain
44	chr6:5233400-5259800	Weak transcription	Brain Angular Gyrus	brain
45	chr6:5233400-5259800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:5233400-5259800	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:5233600-5254200	Weak transcription	Ovary	ovary
48	chr6:5233800-5253800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:5234200-5244600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:5234200-5257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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