Variant report

Variant	rs550951773
Chromosome Location	chr19:36630550-36630551
allele	A/C
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	MXI1	chr19:36630378-36631839	K562	blood:	n/a	n/a
2	CTCF	chr19:36630540-36630690	GM12873	blood:	n/a	chr19:36630610-36630623
3	MAX	chr19:36630293-36632395	Hela-S3	cervix:	n/a	chr19:36630977-36630987
4	IRF1	chr19:36630364-36631119	K562	blood:	n/a	chr19:36630974-36630988
5	ELF1	chr19:36630324-36631269	MCF-7	breast:	n/a	chr19:36630978-36630990
6	SMC3	chr19:36630315-36631732	Hela-S3	cervix:	n/a	chr19:36630401-36630408
7	POLR2A	chr19:36630078-36631946	HUVEC	blood vessel:	n/a	n/a
8	ELF1	chr19:36630280-36630627	K562	blood:	n/a	n/a
9	SRF	chr19:36630288-36631230	ECC-1	luminal epithelium:	n/a	chr19:36630977-36630987
10	STAT3	chr19:36630434-36631022	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr19:36630335-36631671	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:36630093-36632455	U87	brain:	n/a	n/a
13	BACH1	chr19:36630298-36630890	K562	blood:	n/a	n/a
14	GABPA	chr19:36630427-36631947	A549	lung:	n/a	chr19:36630880-36630891 chr19:36630882-36630891 chr19:36630880-36630889 chr19:36630880-36630894 chr19:36630451-36630465 chr19:36630877-36630891
15	NFIC	chr19:36630528-36631360	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:36630344-36631246	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:36630208-36633376	K562	blood:	n/a	n/a
18	TAF1	chr19:36630358-36632015	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr19:36630161-36631899	U87	brain:	n/a	n/a
20	EBF1	chr19:36630351-36630679	GM12878	blood:	n/a	n/a
21	REST	chr19:36630271-36631337	PFSK-1	brain:	n/a	chr19:36631010-36631020 chr19:36631084-36631094 chr19:36630483-36630493
22	SP1	chr19:36630088-36631975	A549	lung:	n/a	chr19:36630422-36630432 chr19:36630833-36630845 chr19:36631478-36631487 chr19:36630724-36630737 chr19:36630416-36630425 chr19:36630977-36630987 chr19:36630835-36630844 chr19:36630977-36630991 chr19:36630833-36630844 chr19:36630423-36630432 chr19:36630977-36630986 chr19:36630978-36630987 chr19:36630415-36630427 chr19:36630422-36630432 chr19:36630781-36630792 chr19:36630976-36630988 chr19:36630833-36630845 chr19:36630417-36630426 chr19:36630976-36630988
23	CTCF	chr19:36630520-36630670	HRE	kidney:	n/a	chr19:36630610-36630623
24	CTCF	chr19:36630500-36630650	GM12872	blood:	n/a	chr19:36630610-36630623
25	CTCF	chr19:36630540-36630690	GM12875	blood:	n/a	chr19:36630610-36630623
26	CTCF	chr19:36630520-36630670	GM12873	blood:	n/a	chr19:36630610-36630623
27	EP300	chr19:36630499-36630701	K562	blood:	n/a	n/a
28	CTCF	chr19:36630541-36630607	HepG2	liver:	n/a	n/a
29	FOXA2	chr19:36630100-36631236	A549	lung:	n/a	chr19:36630288-36630300
30	CTCF	chr19:36630480-36630630	GM12874	blood:	n/a	chr19:36630610-36630623
31	POLR2A	chr19:36630377-36631382	PBDE	blood:	n/a	n/a
32	MAFK	chr19:36630433-36631048	K562	blood:	n/a	n/a
33	POLR2A	chr19:36630350-36631262	HEK293	kidney:	n/a	n/a
34	RELA	chr19:36630480-36631076	GM19099	blood:	n/a	n/a
35	MAX	chr19:36630263-36631070	K562	blood:	n/a	chr19:36630977-36630987
36	ELF1	chr19:36630150-36631077	K562	blood:	n/a	chr19:36630978-36630990
37	PBX3	chr19:36630079-36632738	A549	lung:	n/a	chr19:36632485-36632494
38	TBP	chr19:36630247-36632362	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr19:36630480-36630630	K562	blood:	n/a	chr19:36630610-36630623
40	RAD21	chr19:36630258-36631421	A549	lung:	n/a	chr19:36630484-36630498 chr19:36630474-36630486
41	CHD2	chr19:36630455-36631186	K562	blood:	n/a	n/a
42	RELA	chr19:36630404-36631320	GM18951	blood:	n/a	n/a
43	TEAD4	chr19:36630232-36631918	K562	blood:	n/a	n/a
44	TCF12	chr19:36630305-36632408	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr19:36630540-36630690	BJ	skin:	n/a	chr19:36630610-36630623
46	CTCF	chr19:36630500-36630650	GM12870	blood:	n/a	chr19:36630610-36630623
47	CTCF	chr19:36630420-36630570	HRPEpiC	eye:	n/a	n/a
48	IRF4	chr19:36630410-36631072	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:36630263-36632392	K562	blood:	n/a	n/a
50	POLR2A	chr19:36630323-36632407	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36629391..36631341-chr19:38851035..38853209,2	MCF-7	breast:
2	chr19:36629161..36631921-chr19:37341375..37343285,2	MCF-7	breast:
3	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
4	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
5	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:
6	chr19:36629466..36631434-chr19:38753724..38756328,2	MCF-7	breast:
7	chr19:36630278..36632151-chr19:36704046..36706551,3	MCF-7	breast:
8	chr19:36630466..36632159-chr19:36704253..36707369,3	K562	blood:
9	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
10	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
11	chr19:36628146..36630638-chr19:37017222..37019646,2	K562	blood:
12	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
13	chr19:36604026..36607708-chr19:36630473..36633466,10	K562	blood:
14	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:
15	chr13:38923439..38924342-chr19:36630421..36631091,2	Hela-S3	cervix:

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000105254	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000197863	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000120686	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000251247	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000161277	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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36630000-36630600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr19:36630000-36630600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:36630000-36630800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr19:36630000-36630800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr19:36630000-36630800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:36630000-36630800	Flanking Active TSS	HMEC	breast
7	chr19:36630000-36632200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:36630000-36632200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr19:36630200-36630600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:36630200-36630600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:36630200-36630600	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr19:36630200-36630600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:36630200-36630600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr19:36630200-36630600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr19:36630200-36630600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:36630200-36630600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:36630200-36630600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:36630200-36630600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:36630200-36630600	Flanking Active TSS	Liver	Liver
20	chr19:36630200-36630600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr19:36630200-36630600	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr19:36630200-36630600	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr19:36630200-36630600	Flanking Active TSS	Fetal Thymus	thymus
24	chr19:36630200-36630600	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr19:36630200-36630600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr19:36630200-36630600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr19:36630200-36630600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr19:36630200-36630600	Flanking Active TSS	Thymus	Thymus
29	chr19:36630200-36630600	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:36630200-36630600	Flanking Active TSS	HSMM	muscle
31	chr19:36630200-36630600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:36630200-36630600	Flanking Active TSS	NHLF	lung
33	chr19:36630200-36630800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr19:36630200-36630800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr19:36630200-36630800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr19:36630200-36630800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr19:36630200-36630800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:36630200-36630800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr19:36630200-36630800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr19:36630200-36630800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:36630200-36630800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr19:36630200-36630800	Flanking Active TSS	Dnd41	blood
43	chr19:36630200-36630800	Flanking Active TSS	HUVEC	blood vessel
44	chr19:36630200-36630800	Flanking Active TSS	NHEK	skin
45	chr19:36630200-36631800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:36630200-36631800	Bivalent/Poised TSS	HepG2	liver
47	chr19:36630200-36632200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:36630200-36632200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:36630200-36632200	Active TSS	Brain Anterior Caudate	brain
50	chr19:36630200-36632200	Active TSS	Brain Cingulate Gyrus	brain

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