Variant report

Variant	rs4757514
Chromosome Location	chr11:17424988-17424989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17418305..17421610-chr11:17424187..17428054,3	K562	blood:

Variant related genes	Relation type
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1800853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282930	1.00[EUR][1000 genomes]
rs4757513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55706038	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17411800-17426000	Weak transcription	Lung	lung
2	chr11:17411800-17426000	Weak transcription	Pancreas	Pancrea
3	chr11:17411800-17426800	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:17411800-17426800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:17413200-17432400	Weak transcription	Dnd41	blood
7	chr11:17417800-17428200	Weak transcription	Gastric	stomach
8	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
9	chr11:17420000-17427000	Weak transcription	Brain Germinal Matrix	brain
10	chr11:17420600-17427000	Weak transcription	Hela-S3	cervix
11	chr11:17421600-17427000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:17422000-17427800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:17422000-17428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:17422000-17435800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:17422600-17427600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:17423000-17426000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:17423000-17426800	Weak transcription	Spleen	Spleen
18	chr11:17423200-17427000	Weak transcription	GM12878-XiMat	blood
19	chr11:17423400-17426000	Weak transcription	HSMM	muscle
20	chr11:17423400-17426000	Weak transcription	HSMMtube	muscle
21	chr11:17423400-17426400	Weak transcription	Psoas Muscle	Psoas
22	chr11:17423400-17426800	Weak transcription	Right Ventricle	heart
23	chr11:17423400-17427400	Weak transcription	Right Atrium	heart
24	chr11:17423600-17426200	Weak transcription	Left Ventricle	heart
25	chr11:17423600-17426800	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:17423800-17426800	Weak transcription	Brain Anterior Caudate	brain
27	chr11:17423800-17427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:17424200-17427000	Weak transcription	Fetal Intestine Large	intestine
29	chr11:17424400-17425600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:17424600-17425400	Enhancers	Pancreatic Islets	Pancreatic Islet

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