Variant report

Variant	rs1334488
Chromosome Location	chr6:118641857-118641858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118640782..118642845-chr6:119024571..119027224,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12110834	1.00[AMR][1000 genomes]
rs12110841	1.00[AMR][1000 genomes]
rs12110924	1.00[ASW][hapmap]
rs17079938	1.00[AMR][1000 genomes]
rs17079958	1.00[AMR][1000 genomes]
rs17079987	1.00[AMR][1000 genomes]
rs17080005	1.00[AMR][1000 genomes]
rs17080051	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56733825	1.00[AMR][1000 genomes]
rs56822560	1.00[AMR][1000 genomes]
rs56871689	1.00[AMR][1000 genomes]
rs56987873	1.00[AMR][1000 genomes]
rs57299413	1.00[AMR][1000 genomes]
rs57770952	1.00[AMR][1000 genomes]
rs57835145	1.00[AMR][1000 genomes]
rs57839981	1.00[AMR][1000 genomes]
rs58618967	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58862587	1.00[AMR][1000 genomes]
rs59036959	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59314221	1.00[AMR][1000 genomes]
rs59491395	1.00[AMR][1000 genomes]
rs59944934	1.00[AMR][1000 genomes]
rs60331078	1.00[AMR][1000 genomes]
rs61055817	1.00[AMR][1000 genomes]
rs61142883	1.00[AMR][1000 genomes]
rs61458307	1.00[AMR][1000 genomes]
rs6942059	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73512506	1.00[AMR][1000 genomes]
rs73512516	1.00[AMR][1000 genomes]
rs73512529	1.00[AMR][1000 genomes]
rs73514247	1.00[AMR][1000 genomes]
rs73514260	1.00[AMR][1000 genomes]
rs73514262	1.00[AMR][1000 genomes]
rs73514267	1.00[AMR][1000 genomes]
rs73514273	1.00[AMR][1000 genomes]
rs73514289	1.00[AMR][1000 genomes]
rs73514296	1.00[AMR][1000 genomes]
rs73516114	1.00[AMR][1000 genomes]
rs73516128	1.00[AMR][1000 genomes]
rs73516132	1.00[AMR][1000 genomes]
rs73518523	1.00[AMR][1000 genomes]
rs73518538	1.00[AMR][1000 genomes]
rs73518545	1.00[AMR][1000 genomes]
rs73518551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518563	1.00[AMR][1000 genomes]
rs73518582	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73520323	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524109	1.00[AMR][1000 genomes]
rs73525837	1.00[AMR][1000 genomes]
rs73525877	1.00[AMR][1000 genomes]
rs73525881	1.00[AMR][1000 genomes]
rs73525883	1.00[AMR][1000 genomes]
rs73525887	1.00[AMR][1000 genomes]
rs73525889	1.00[AMR][1000 genomes]
rs73525896	1.00[AMR][1000 genomes]
rs73527806	1.00[AMR][1000 genomes]
rs73527809	1.00[AMR][1000 genomes]
rs73527815	1.00[AMR][1000 genomes]
rs73530040	1.00[AMR][1000 genomes]
rs73530042	1.00[AMR][1000 genomes]
rs7739822	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv604554	chr6:118631282-118716318	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118634400-118642600	Enhancers	Colon Smooth Muscle	Colon
2	chr6:118635400-118642000	Weak transcription	Pancreas	Pancrea
3	chr6:118635400-118646400	Weak transcription	Right Ventricle	heart
4	chr6:118637000-118642400	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr6:118637400-118646400	Weak transcription	Left Ventricle	heart
6	chr6:118638200-118643000	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:118638400-118643400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:118638800-118642400	Enhancers	Brain Anterior Caudate	brain
9	chr6:118639000-118642600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:118639200-118642400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:118639200-118645400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:118639400-118642000	Weak transcription	NHDF-Ad	bronchial
13	chr6:118639400-118643600	Enhancers	Brain Germinal Matrix	brain
14	chr6:118640600-118642400	Enhancers	Brain Substantia Nigra	brain
15	chr6:118640600-118642600	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:118640600-118643200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:118640800-118643200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:118641000-118642200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:118641000-118642200	Enhancers	NHLF	lung
20	chr6:118641000-118642400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:118641000-118642400	Weak transcription	Fetal Stomach	stomach
22	chr6:118641000-118642800	Weak transcription	Ovary	ovary
23	chr6:118641400-118644800	Weak transcription	Aorta	Aorta
24	chr6:118641400-118645000	Weak transcription	Fetal Heart	heart
25	chr6:118641400-118646400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:118641400-118647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:118641400-118648400	Weak transcription	Psoas Muscle	Psoas
28	chr6:118641800-118642200	Enhancers	Fetal Lung	lung
29	chr6:118641800-118642400	Enhancers	Fetal Brain Female	brain
30	chr6:118641800-118645400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:118641800-118646600	Weak transcription	Right Atrium	heart

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