Variant report

Variant	rs34610626
Chromosome Location	chr6:2429607-2429608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:2429452..2431955-chr6:2435329..2437975,2	K562	blood:
2	chr6:2424842..2426390-chr6:2428236..2430027,2	MCF-7	breast:
3	chr6:2429452..2431211-chr6:2436475..2439136,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GMDS-12	chr6:2429591-2429686	NONHSAT106668

Variant related genes	Relation type
ENSG00000272465	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11965611	0.86[EUR][1000 genomes]
rs11968173	0.86[EUR][1000 genomes]
rs12529088	0.86[EUR][1000 genomes]
rs13191094	0.80[EUR][1000 genomes]
rs13194198	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13198172	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13204171	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13214285	0.85[EUR][1000 genomes]
rs13220248	0.85[EUR][1000 genomes]
rs17135028	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17536894	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17608626	0.85[EUR][1000 genomes]
rs17609498	0.99[EUR][1000 genomes]
rs2073004	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360628	0.86[EUR][1000 genomes]
rs34077848	0.86[EUR][1000 genomes]
rs34172338	0.86[EUR][1000 genomes]
rs34854900	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34901328	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34996746	0.96[EUR][1000 genomes]
rs35182831	0.99[EUR][1000 genomes]
rs35658601	0.89[EUR][1000 genomes]
rs35892674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35918040	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3734504	0.86[EUR][1000 genomes]
rs3734505	0.86[EUR][1000 genomes]
rs3734507	0.85[EUR][1000 genomes]
rs3823107	0.85[EUR][1000 genomes]
rs4596531	0.86[EUR][1000 genomes]
rs4959180	0.85[EUR][1000 genomes]
rs4959181	0.80[EUR][1000 genomes]
rs4959182	0.85[EUR][1000 genomes]
rs4959184	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959654	0.85[EUR][1000 genomes]
rs4959658	0.80[EUR][1000 genomes]
rs4959661	0.86[EUR][1000 genomes]
rs4959662	0.86[EUR][1000 genomes]
rs4959663	0.85[EUR][1000 genomes]
rs4959665	0.91[ASN][1000 genomes]
rs4959668	0.92[EUR][1000 genomes]
rs4959669	0.91[EUR][1000 genomes]
rs55678179	0.82[EUR][1000 genomes]
rs55939357	0.95[EUR][1000 genomes]
rs56343276	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59493792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391186	0.86[EUR][1000 genomes]
rs6908555	0.86[EUR][1000 genomes]
rs6911665	0.86[EUR][1000 genomes]
rs71552124	0.99[EUR][1000 genomes]
rs7738954	0.85[EUR][1000 genomes]
rs7773388	0.85[EUR][1000 genomes]
rs9501836	0.86[EUR][1000 genomes]
rs9501838	0.86[EUR][1000 genomes]
rs9503185	0.86[EUR][1000 genomes]
rs9503186	0.86[EUR][1000 genomes]
rs9503187	0.86[EUR][1000 genomes]
rs9503188	0.85[EUR][1000 genomes]
rs9503189	0.86[EUR][1000 genomes]
rs9791368	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
2	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
5	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
6	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv883391	chr6:2282747-2507448	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1016878	chr6:2375784-2680476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv498004	chr6:2380300-3313587	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2399800-2449200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:2402200-2449200	Weak transcription	Left Ventricle	heart
3	chr6:2414600-2434600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:2414600-2452000	Weak transcription	Ovary	ovary
5	chr6:2414800-2448800	Weak transcription	Liver	Liver
6	chr6:2414800-2449200	Weak transcription	Fetal Stomach	stomach
7	chr6:2417600-2454200	Weak transcription	Pancreas	Pancrea
8	chr6:2426400-2439800	Weak transcription	Aorta	Aorta
9	chr6:2427800-2429800	Weak transcription	Osteobl	bone
10	chr6:2427800-2432000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:2427800-2432000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:2427800-2432000	Weak transcription	NH-A	brain
13	chr6:2427800-2432000	Weak transcription	NHDF-Ad	bronchial
14	chr6:2428000-2432000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:2428400-2431400	Weak transcription	HMEC	breast
16	chr6:2428800-2430000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:2428800-2446200	Weak transcription	Right Ventricle	heart
18	chr6:2429200-2429800	Enhancers	Esophagus	oesophagus
19	chr6:2429200-2430200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:2429600-2429800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:2429600-2430000	Enhancers	HSMM	muscle
22	chr6:2429600-2430200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:2429600-2430400	Enhancers	Muscle Satellite Cultured Cells	--

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