Variant report

Variant	rs549771992
Chromosome Location	chr15:55640311-55640312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:55635337-55643349	K562	blood:	n/a	n/a
2	POLR2A	chr15:55640277-55640361	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:55640262-55640320	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:55638077..55640418-chr15:55645397..55647680,2	K562	blood:
2	chr15:55638918..55640677-chr15:55646160..55647680,2	K562	blood:
3	chr15:55639076..55640732-chr15:55640931..55642557,2	MCF-7	breast:

Variant related genes	Relation type
PIGB	TF binding region
ENSG00000069943	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv904243	chr15:55627528-55734158	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55611800-55699400	Weak transcription	Colonic Mucosa	Colon
2	chr15:55612000-55665000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:55612000-55671000	Weak transcription	Right Ventricle	heart
4	chr15:55612000-55671000	Weak transcription	Small Intestine	intestine
5	chr15:55612600-55640400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:55612600-55650200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:55612600-55663600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:55612600-55675600	Weak transcription	Aorta	Aorta
9	chr15:55612800-55640400	Weak transcription	NHLF	lung
10	chr15:55612800-55649600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:55612800-55677600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:55614800-55649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:55620400-55658000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:55623000-55652600	Weak transcription	Psoas Muscle	Psoas
15	chr15:55623400-55642200	Weak transcription	Hela-S3	cervix
16	chr15:55623800-55660200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:55624000-55642800	Weak transcription	Esophagus	oesophagus
18	chr15:55624200-55640400	Weak transcription	Spleen	Spleen
19	chr15:55625200-55643000	Strong transcription	Primary T cells from cord blood	blood
20	chr15:55626000-55649600	Weak transcription	HUVEC	blood vessel
21	chr15:55628600-55647800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:55630000-55695000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:55630200-55649000	Weak transcription	Osteobl	bone
24	chr15:55630400-55644400	Weak transcription	A549	lung
25	chr15:55630400-55654600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr15:55630400-55675600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:55630600-55640400	Weak transcription	Thymus	Thymus
28	chr15:55630600-55648000	Weak transcription	HepG2	liver
29	chr15:55630600-55655800	Weak transcription	Brain Angular Gyrus	brain
30	chr15:55630600-55660200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:55630600-55663200	Weak transcription	Fetal Lung	lung
32	chr15:55630600-55667800	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:55630600-55668400	Weak transcription	Brain Substantia Nigra	brain
34	chr15:55630800-55640400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:55630800-55647000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:55630800-55652400	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:55630800-55683600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr15:55631000-55667800	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:55631200-55644600	Weak transcription	Fetal Intestine Large	intestine
40	chr15:55631200-55646600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:55631200-55663200	Weak transcription	Pancreas	Pancrea
42	chr15:55631200-55674000	Weak transcription	Placenta	Placenta
43	chr15:55631800-55649600	Weak transcription	NH-A	brain
44	chr15:55632000-55646800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:55632200-55640400	Weak transcription	Dnd41	blood
46	chr15:55633400-55646400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:55633600-55667200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr15:55635000-55640400	Weak transcription	Liver	Liver
49	chr15:55635000-55643600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr15:55635800-55675200	Weak transcription	Fetal Brain Male	brain

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