Variant report

Variant	rs2268634
Chromosome Location	chr6:39052347-39052348
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
2	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10305516	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10305525	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2235866	0.83[EUR][1000 genomes]
rs2268633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268635	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268636	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2300612	0.84[EUR][1000 genomes]
rs60678751	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv528286	chr6:39019503-39060478	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv519907	chr6:39032415-39055012	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031922	chr6:39034484-39060762	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv462919	chr6:39050384-39062990	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv602963	chr6:39050384-39062990	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39021200-39072000	Weak transcription	Gastric	stomach
2	chr6:39024200-39057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
4	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:39045200-39054000	Weak transcription	Right Atrium	heart
6	chr6:39047400-39053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:39050400-39055000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:39050400-39055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:39050600-39052600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:39050800-39055200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:39051200-39052400	Weak transcription	Brain Germinal Matrix	brain
12	chr6:39051800-39053200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr6:39051800-39053800	Bivalent Enhancer	Fetal Stomach	stomach
14	chr6:39052000-39052400	Enhancers	Fetal Heart	heart
15	chr6:39052000-39052800	Enhancers	Rectal Smooth Muscle	rectum
16	chr6:39052200-39052400	Enhancers	Brain Angular Gyrus	brain
17	chr6:39052200-39052400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr6:39052200-39052400	Enhancers	Psoas Muscle	Psoas
19	chr6:39052200-39052600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr6:39052200-39052800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:39052200-39053000	Enhancers	Left Ventricle	heart
22	chr6:39052200-39053200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:39052200-39053800	Enhancers	Right Ventricle	heart
24	chr6:39052200-39054200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:39052200-39054400	Enhancers	Fetal Lung	lung
26	chr6:39052200-39055800	Weak transcription	Colon Smooth Muscle	Colon

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