Variant report

Variant	rs57160446
Chromosome Location	chr6:4949688-4949689
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	chr5:43483989..43484532-chr6:4949051..4949829,2	Hela-S3	cervix:
2	chr6:4948514..4950542-chr6:5000037..5002807,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56016443	1.00[AMR][1000 genomes]
rs56055489	1.00[AMR][1000 genomes]
rs56237632	1.00[AMR][1000 genomes]
rs56880767	1.00[AMR][1000 genomes]
rs57122066	1.00[AMR][1000 genomes]
rs58909675	1.00[AMR][1000 genomes]
rs59726842	1.00[AMR][1000 genomes]
rs60237396	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727147	1.00[AMR][1000 genomes]
rs61452448	1.00[AMR][1000 genomes]
rs73717605	1.00[AMR][1000 genomes]
rs73717608	1.00[AMR][1000 genomes]
rs73717610	1.00[AMR][1000 genomes]
rs73717617	1.00[AMR][1000 genomes]
rs73717624	1.00[AMR][1000 genomes]
rs73717773	1.00[AMR][1000 genomes]
rs73717774	1.00[AMR][1000 genomes]
rs73717801	1.00[AMR][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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4933600-4950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4938000-4956400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:4942200-4957200	Strong transcription	Fetal Intestine Small	intestine
4	chr6:4942400-4956800	Weak transcription	Small Intestine	intestine
5	chr6:4942600-4953800	Weak transcription	Dnd41	blood
6	chr6:4942600-4956200	Strong transcription	Primary B cells from cord blood	blood
7	chr6:4942800-4951200	Weak transcription	Stomach Mucosa	stomach
8	chr6:4942800-4956600	Strong transcription	Primary T cells from cord blood	blood
9	chr6:4943000-4954600	Weak transcription	Fetal Kidney	kidney
10	chr6:4943200-4954000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:4943200-4955800	Weak transcription	Brain Substantia Nigra	brain
12	chr6:4943200-4956000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:4943200-4956800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:4943400-4953800	Weak transcription	NH-A	brain
15	chr6:4943400-4954200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:4943400-4956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:4943400-4956200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:4943400-4956200	Weak transcription	HUVEC	blood vessel
19	chr6:4943400-4957800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:4943600-4950800	Strong transcription	GM12878-XiMat	blood
21	chr6:4943600-4954000	Weak transcription	HMEC	breast
22	chr6:4943600-4955600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr6:4943600-4955600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr6:4943600-4959600	Weak transcription	NHDF-Ad	bronchial
25	chr6:4943600-4970000	Weak transcription	Psoas Muscle	Psoas
26	chr6:4943800-4951000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:4943800-4953000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:4943800-4954000	Weak transcription	HSMM	muscle
29	chr6:4943800-4956600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr6:4943800-4956800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:4943800-4956800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr6:4944000-4949800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr6:4944000-4957200	Strong transcription	Fetal Muscle Leg	muscle
34	chr6:4944000-4957400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:4944200-4950200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:4944200-4950800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:4944200-4955000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr6:4944200-4955200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:4944400-4950400	Strong transcription	Fetal Intestine Large	intestine
40	chr6:4944400-4950800	Strong transcription	Gastric	stomach
41	chr6:4944400-4954800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:4944400-4954800	Strong transcription	Fetal Stomach	stomach
43	chr6:4944400-4956400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:4944400-4956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:4944400-4956600	Strong transcription	Placenta	Placenta
46	chr6:4944400-4956800	Strong transcription	Adipose Nuclei	Adipose
47	chr6:4944600-4949800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:4944600-4950800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:4944600-4950800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:4944600-4950800	Strong transcription	Right Ventricle	heart

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