Variant report

Variant	rs3121595
Chromosome Location	chr6:30033472-30033473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30033185..30035212-chr6:30180473..30182741,2	MCF-7	breast:
2	chr6:30032984..30034592-chr6:30523078..30524933,2	K562	blood:
3	chr6:27777374..27779571-chr6:30031951..30033939,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204590	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000204576	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1061536	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1632873	0.84[ASN][1000 genomes]
rs3016019	0.84[ASN][1000 genomes]
rs3094145	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121593	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121596	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121597	0.83[ASN][1000 genomes]
rs3132128	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132683	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893259	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893465	0.81[EUR][1000 genomes]
rs4472395	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959036	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5025708	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763159	0.92[EUR][1000 genomes]
rs9260676	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260685	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260702	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260706	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260761	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260786	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260808	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260857	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260973	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260997	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261061	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261136	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261142	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9261143	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261211	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261402	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30030000-30033600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:30030000-30034200	Weak transcription	Left Ventricle	heart
3	chr6:30030000-30034200	Weak transcription	Ovary	ovary
4	chr6:30030200-30033600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:30030200-30033600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:30030200-30033600	Weak transcription	Brain Angular Gyrus	brain
7	chr6:30030200-30033600	Weak transcription	Brain Anterior Caudate	brain
8	chr6:30030200-30033600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:30030200-30033600	Weak transcription	Brain Germinal Matrix	brain
10	chr6:30030200-30033600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:30030200-30033600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:30030200-30033600	Weak transcription	Brain Substantia Nigra	brain
13	chr6:30030200-30033600	Weak transcription	Fetal Heart	heart
14	chr6:30030200-30033600	Weak transcription	Fetal Stomach	stomach
15	chr6:30030200-30033600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:30030200-30033600	Weak transcription	A549	lung
17	chr6:30030200-30033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:30030200-30033800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:30030200-30033800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:30030200-30033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:30030200-30033800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:30030200-30033800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:30030200-30033800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:30030200-30033800	Weak transcription	Adipose Nuclei	Adipose
25	chr6:30030200-30033800	Weak transcription	Colonic Mucosa	Colon
26	chr6:30030200-30033800	Weak transcription	Pancreas	Pancrea
27	chr6:30030200-30033800	Weak transcription	Psoas Muscle	Psoas
28	chr6:30030200-30033800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:30030200-30033800	Weak transcription	Right Atrium	heart
30	chr6:30030200-30033800	Weak transcription	Right Ventricle	heart
31	chr6:30030200-30033800	Weak transcription	HSMMtube	muscle
32	chr6:30030200-30034000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:30030200-30034000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:30030200-30034000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:30030200-30034000	Weak transcription	Aorta	Aorta
36	chr6:30030200-30034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:30030200-30034200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:30030200-30034200	Weak transcription	Lung	lung
39	chr6:30030200-30034400	Weak transcription	Spleen	Spleen
40	chr6:30030400-30033600	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:30030400-30033800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:30030400-30033800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:30030400-30033800	Enhancers	Fetal Intestine Small	intestine
44	chr6:30030400-30033800	Weak transcription	NHLF	lung
45	chr6:30030600-30033600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:30030800-30033600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:30030800-30033600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:30030800-30033600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:30030800-30033600	Weak transcription	Stomach Mucosa	stomach
50	chr6:30030800-30034400	Weak transcription	Gastric	stomach

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