Variant report

Variant	rs376980241
Chromosome Location	chr19:39260752-39260753
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	TCF12	chr19:39260239-39260764	A549	lung:	n/a	n/a
2	CTCF	chr19:39260398-39260863	GM19239	blood:	n/a	chr19:39260556-39260565
3	POLR2A	chr19:39260228-39260855	GM12891	blood:	n/a	n/a
4	E2F6	chr19:39260323-39260854	H1-hESC	embryonic stem cell:	n/a	chr19:39260372-39260384
5	POU2F2	chr19:39260239-39260762	GM12878	blood:	n/a	n/a
6	RAD21	chr19:39260280-39260840	HCT-116	colon:	n/a	n/a
7	CTCF	chr19:39260315-39260791	H1-hESC	embryonic stem cell:	n/a	chr19:39260556-39260565
8	PAX5	chr19:39260391-39260785	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:39260311-39260852	GM15510	blood:	n/a	n/a
10	ZNF263	chr19:39260404-39260783	HEK293-T-REx	kidney:	n/a	n/a
11	CTCF	chr19:39260306-39260886	K562	blood:	n/a	chr19:39260556-39260565
12	MTA3	chr19:39260226-39260845	GM12878	blood:	n/a	n/a
13	E2F6	chr19:39260096-39260916	A549	lung:	n/a	chr19:39260372-39260384
14	POLR2A	chr19:39260293-39260842	GM12878	blood:	n/a	n/a
15	MXI1	chr19:39260479-39260782	GM12878	blood:	n/a	chr19:39260661-39260670
16	CTCF	chr19:39260404-39260923	SK-N-SH	brain:	n/a	chr19:39260556-39260565
17	POLR2A	chr19:39260293-39262971	PANC-1	pancreas:	n/a	n/a
18	BHLHE40	chr19:39260480-39260797	GM12878	blood:	n/a	chr19:39260550-39260566
19	CTCF	chr19:39259095-39260918	A549	lung:	n/a	chr19:39259577-39259590 chr19:39260556-39260565
20	CTCF	chr19:39260369-39260772	GM12878	blood:	n/a	chr19:39260556-39260565
21	SMC3	chr19:39260261-39260860	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr19:39260196-39261998	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr19:39260253-39260866	HCT-116	colon:	n/a	chr19:39260556-39260565
24	POLR2A	chr19:39260289-39260871	GM12891	blood:	n/a	n/a
25	MAX	chr19:39260398-39260804	K562	blood:	n/a	chr19:39260661-39260671 chr19:39260663-39260670
26	MAX	chr19:39260291-39260844	HCT-116	colon:	n/a	chr19:39260661-39260671 chr19:39260663-39260670
27	ELF1	chr19:39260232-39260907	GM12878	blood:	n/a	n/a
28	MYC	chr19:39260443-39260834	HUVEC	blood vessel:	n/a	chr19:39260661-39260671 chr19:39260663-39260670
29	PAX5	chr19:39260283-39260923	GM12878	blood:	n/a	n/a
30	CTCF	chr19:39260319-39260792	MCF-7	breast:	n/a	chr19:39260556-39260565
31	POLR2A	chr19:39260305-39260814	HUVEC	blood vessel:	n/a	n/a
32	ETS1	chr19:39260342-39260755	GM12878	blood:	n/a	n/a
33	ZNF143	chr19:39260389-39260757	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr19:39260386-39260761	GM12892	blood:	n/a	chr19:39260548-39260557 chr19:39260717-39260731
35	RAD21	chr19:39260268-39260792	HCT-116	colon:	n/a	n/a
36	POLR2A	chr19:39260267-39262812	PANC-1	pancreas:	n/a	n/a
37	PML	chr19:39260210-39260920	GM12878	blood:	n/a	chr19:39260695-39260703
38	MXI1	chr19:39259893-39260817	IMR90	lung:	n/a	chr19:39260661-39260670
39	CTCF	chr19:39260411-39260841	GM12878	blood:	n/a	chr19:39260556-39260565
40	USF2	chr19:39260567-39260763	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:39260251-39260772	GM12891	blood:	n/a	n/a
42	ELK1	chr19:39260550-39260758	GM12878	blood:	n/a	n/a
43	TCF3	chr19:39260314-39260852	GM12878	blood:	n/a	n/a
44	SP1	chr19:39260401-39260754	GM12878	blood:	n/a	n/a
45	RUNX3	chr19:39260403-39260792	GM12878	blood:	n/a	n/a
46	JUND	chr19:39260220-39260783	A549	lung:	n/a	n/a
47	PAX5	chr19:39260342-39260786	GM12891	blood:	n/a	n/a
48	CTCF	chr19:39260356-39260776	H1-hESC	embryonic stem cell:	n/a	chr19:39260556-39260565
49	MAX	chr19:39260391-39260817	GM12878	blood:	n/a	chr19:39260661-39260671 chr19:39260663-39260670
50	BCL3	chr19:39260146-39260863	A549	lung:	n/a	chr19:39260547-39260560

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39260117..39262134-chr19:39341376..39343069,2	K562	blood:

Variant related genes	Relation type
CAPN12	TF binding region
ENSG00000104824	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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1064688	chr19:39249059-39291526	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1061904	chr19:39249692-39302843	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv911671	chr19:39252238-39306425	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1063592	chr19:39257977-39287265	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv9719	chr19:39260214-39262452	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39246400-39270800	Weak transcription	K562	blood
2	chr19:39254200-39265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:39259800-39261000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:39259800-39261000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr19:39260000-39261000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:39260000-39261000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:39260000-39261000	Enhancers	Lung	lung
8	chr19:39260000-39261000	Enhancers	Pancreas	Pancrea
9	chr19:39260000-39261000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr19:39260000-39261000	Enhancers	Stomach Mucosa	stomach
11	chr19:39260000-39261000	Enhancers	Spleen	Spleen
12	chr19:39260000-39261000	Enhancers	HMEC	breast
13	chr19:39260200-39260800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:39260200-39260800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:39260200-39260800	Active TSS	Right Atrium	heart
16	chr19:39260200-39260800	Enhancers	A549	lung
17	chr19:39260200-39261000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:39260200-39261000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr19:39260200-39261000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr19:39260200-39261000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr19:39260200-39261000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:39260200-39261000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr19:39260200-39261000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:39260200-39261000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:39260200-39261000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:39260200-39261000	Flanking Active TSS	Colonic Mucosa	Colon
27	chr19:39260200-39261000	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr19:39260200-39261000	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr19:39260200-39261000	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr19:39260200-39261000	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr19:39260200-39261000	Flanking Active TSS	Fetal Thymus	thymus
32	chr19:39260200-39261000	Flanking Active TSS	Left Ventricle	heart
33	chr19:39260200-39261000	Active TSS	Rectal Smooth Muscle	rectum
34	chr19:39260200-39261000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr19:39260200-39261000	Flanking Active TSS	HUVEC	blood vessel
36	chr19:39260200-39261000	Active TSS	Osteobl	bone
37	chr19:39260200-39261200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr19:39260200-39261200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:39260200-39261200	Enhancers	Placenta	Placenta
40	chr19:39260200-39261200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr19:39260400-39260800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr19:39260400-39260800	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr19:39260400-39260800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:39260400-39260800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr19:39260400-39261000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:39260400-39261000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr19:39260400-39261000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr19:39260400-39261000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:39260400-39261000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:39260400-39261000	Active TSS	Brain Anterior Caudate	brain

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