Variant report

Variant	rs144618446
Chromosome Location	chr11:58939709-58939710
allele	C/G
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	RELA	chr11:58938906-58939772	GM19099	blood:	n/a	n/a
2	SIN3A	chr11:58938945-58942122	H1-hESC	embryonic stem cell:	n/a	chr11:58939520-58939533 chr11:58941266-58941279
3	NFATC1	chr11:58938785-58939830	GM12878	blood:	n/a	n/a
4	MTA3	chr11:58938544-58939888	GM12878	blood:	n/a	n/a
5	CCNT2	chr11:58938942-58940172	K562	blood:	n/a	chr11:58939582-58939591 chr11:58939560-58939569
6	MAX	chr11:58938910-58939793	K562	blood:	n/a	chr11:58939511-58939521
7	SMARCB1	chr11:58939077-58941966	Hela-S3	cervix:	n/a	n/a
8	POU2F2	chr11:58938873-58941108	GM12878	blood:	n/a	chr11:58940304-58940316 chr11:58939780-58939798 chr11:58939563-58939575 chr11:58940301-58940313 chr11:58939785-58939792 chr11:58939784-58939794 chr11:58939104-58939116 chr11:58939784-58939793
9	RAD21	chr11:58938727-58939747	IMR90	lung:	n/a	chr11:58939067-58939080 chr11:58939064-58939083 chr11:58939507-58939521 chr11:58939065-58939079 chr11:58939069-58939079
10	POU2F2	chr11:58939575-58939768	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:58939453-58939845	A549	lung:	n/a	n/a
12	YY1	chr11:58939225-58939819	GM12891	blood:	n/a	n/a
13	CTCF	chr11:58938362-58940223	SK-N-SH	brain:	n/a	chr11:58939063-58939081 chr11:58939066-58939079 chr11:58939066-58939075 chr11:58939106-58939116 chr11:58939064-58939080 chr11:58939508-58939521 chr11:58939068-58939078
14	POLR2A	chr11:58938795-58945281	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:58938963-58941106	GM19099	blood:	n/a	n/a
16	ZBTB7A	chr11:58939386-58940023	K562	blood:	n/a	n/a
17	MAX	chr11:58938986-58939821	SK-N-SH	brain:	n/a	chr11:58939511-58939521
18	MAX	chr11:58938768-58940390	A549	lung:	n/a	chr11:58939511-58939521
19	MAX	chr11:58939322-58939804	ECC-1	luminal epithelium:	n/a	chr11:58939511-58939521
20	POLR2A	chr11:58939413-58939859	HCT-116	colon:	n/a	n/a
21	SP1	chr11:58938841-58939717	A549	lung:	n/a	chr11:58939110-58939120 chr11:58939581-58939593 chr11:58939582-58939591 chr11:58939110-58939120
22	BHLHE40	chr11:58938960-58939774	HepG2	liver:	n/a	n/a
23	E2F6	chr11:58939137-58939848	K562	blood:	n/a	chr11:58939440-58939449
24	MAX	chr11:58938887-58939779	NB4	blood:	n/a	chr11:58939511-58939521
25	TCF12	chr11:58938800-58939777	A549	lung:	n/a	chr11:58939063-58939073
26	EP300	chr11:58938926-58939830	ECC-1	luminal epithelium:	n/a	chr11:58939305-58939319 chr11:58939440-58939449
27	POLR2A	chr11:58939470-58939804	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:58938940-58939899	H1-hESC	embryonic stem cell:	n/a	n/a
29	POU2F2	chr11:58939422-58939846	GM12878	blood:	n/a	chr11:58939780-58939798 chr11:58939563-58939575 chr11:58939785-58939792 chr11:58939784-58939794 chr11:58939784-58939793
30	POLR2A	chr11:58939087-58942313	GM12878	blood:	n/a	n/a
31	YY1	chr11:58939290-58939864	HepG2	liver:	n/a	n/a
32	FOXA1	chr11:58939522-58939858	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:58939548-58939818	HepG2	liver:	n/a	n/a
34	CTCF	chr11:58938924-58939720	H1-hESC	embryonic stem cell:	n/a	chr11:58939063-58939081 chr11:58939066-58939079 chr11:58939066-58939075 chr11:58939106-58939116 chr11:58939064-58939080 chr11:58939508-58939521 chr11:58939068-58939078
35	MAX	chr11:58939319-58939831	SK-N-SH	brain:	n/a	chr11:58939511-58939521
36	MAZ	chr11:58938904-58940204	Hela-S3	cervix:	n/a	chr11:58939511-58939521
37	ZNF143	chr11:58938874-58939764	K562	blood:	n/a	chr11:58939440-58939450
38	MYC	chr11:58938923-58939709	H1-hESC	embryonic stem cell:	n/a	chr11:58939511-58939521
39	E2F6	chr11:58939351-58939774	K562	blood:	n/a	chr11:58939440-58939449
40	POLR2A	chr11:58938854-58939885	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:58939192-58941003	GM18505	blood:	n/a	n/a
42	POLR2A	chr11:58938860-58941234	GM12892	blood:	n/a	n/a
43	MAZ	chr11:58938731-58942643	IMR90	lung:	n/a	chr11:58939511-58939521 chr11:58942531-58942541
44	MTA3	chr11:58938946-58939838	GM12878	blood:	n/a	n/a
45	RUNX3	chr11:58938852-58939825	GM12878	blood:	n/a	n/a
46	MXI1	chr11:58938944-58939725	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr11:58938845-58939735	GM12878	blood:	n/a	chr11:58939063-58939081 chr11:58939066-58939079 chr11:58939066-58939075 chr11:58939106-58939116 chr11:58939064-58939080 chr11:58939508-58939521 chr11:58939068-58939078
48	E2F6	chr11:58938972-58939879	A549	lung:	n/a	chr11:58939440-58939449
49	YY1	chr11:58938888-58940427	GM12892	blood:	n/a	chr11:58940048-58940059
50	POLR2A	chr11:58939537-58939745	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58939691-58939741	GM12891	blood:	n/a
2	chr11:58939694-58939744	SK-N-SH_RA	brain:	n/a
3	chr11:58939691-58939741	ProgFib	skin:	n/a
4	chr11:58939694-58939744	HNPCEpiC	eye:	n/a
5	chr11:58939694-58939744	HCM	heart:	n/a
6	chr11:58939691-58939741	H1-hESC	embryonic stem cell:	embryo
7	chr11:58939694-58939744	HepG2	liver:	n/a
8	chr11:58939691-58939741	Caco-2	colon:	n/a
9	chr11:58939691-58939741	HCPEpiC	choroid plexus:	n/a
10	chr11:58939694-58939744	SKMC	muscle:	n/a
11	chr11:58939694-58939744	SAEC	small airway:	n/a
12	chr11:58939694-58939744	AG10803	skin:	n/a
13	chr11:58939694-58939744	NT2-D1	testis:	n/a
14	chr11:58939691-58939741	AG04449	skin:	fetal
15	chr11:58939691-58939741	NHBE	bronchial:	n/a
16	chr11:58939694-58939744	HCF	heart:	n/a
17	chr11:58939694-58939744	HAEpiC	amniotic membrane:	n/a
18	chr11:58939691-58939741	AoSMC	blood vessel:	n/a
19	chr11:58939694-58939744	HEEpiC	esophagus:	n/a
20	chr11:58939691-58939741	AG09309	skin:	n/a
21	chr11:58939694-58939744	HRPEpiC	eye:	n/a
22	chr11:58939694-58939744	BJ	skin:	n/a
23	chr11:58939694-58939744	K562	blood:	n/a
24	chr11:58939694-58939744	AG09309	skin:	n/a
25	chr11:58939691-58939741	Hela-S3	cervix:	n/a
26	chr11:58939694-58939744	Hepatocyte	liver:	n/a
27	chr11:58939694-58939744	T-47D	breast:	n/a
28	chr11:58939691-58939741	SKMC	muscle:	n/a
29	chr11:58939694-58939744	HL-60	blood:	n/a
30	chr11:58939691-58939741	ovcar-3	ovarian:	n/a
31	chr11:58939694-58939744	CMK	blood:	n/a
32	chr11:58939691-58939741	NHDF-neo	bronchial:	n/a
33	chr11:58939691-58939741	AG04450	lung:	fetal
34	chr11:58939691-58939741	BE2_C	brain:	n/a
35	chr11:58939694-58939744	IMR90	lung:	fetal
36	chr11:58939694-58939744	HMEC	breast:	n/a
37	chr11:58939691-58939741	ECC-1	luminal epithelium:	n/a
38	chr11:58939694-58939744	HIPEpiC	eye:	n/a
39	chr11:58939691-58939741	HRE	kidney:	n/a
40	chr11:58939694-58939744	PrEC	prostate:	n/a
41	chr11:58939691-58939741	Jurkat	blood:	n/a
42	chr11:58939691-58939741	PFSK-1	brain:	n/a
43	chr11:58939691-58939741	GM12892	blood:	n/a
44	chr11:58939694-58939744	AoSMC	blood vessel:	n/a
45	chr11:58939691-58939741	MCF10A-Er-Src	breast:	n/a
46	chr11:58939694-58939744	GM12891	blood:	n/a
47	chr11:58939694-58939744	H1-hESC	embryonic stem cell:	embryo
48	chr11:58939691-58939741	GM12878	blood:	n/a
49	chr11:58939691-58939741	HCT-116	colon:	n/a
50	chr11:58939691-58939741	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58939007..58939939-chr11:58975144..58976495,4	MCF-7	breast:
2	chr11:58938973..58939965-chr11:59447518..59448398,3	K562	blood:

Variant related genes	Relation type
DTX4	TF binding region
DTX4	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3427190	chr11:58938601-58941149	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3399192	chr11:58938776-58941074	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58938600-58942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:58938800-58939800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:58938800-58939800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:58938800-58940200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:58938800-58940200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:58938800-58940200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:58938800-58940200	Active TSS	Primary T cells from cord blood	blood
8	chr11:58938800-58940200	Active TSS	Brain Angular Gyrus	brain
9	chr11:58938800-58940200	Active TSS	Brain Germinal Matrix	brain
10	chr11:58938800-58940200	Active TSS	Fetal Brain Female	brain
11	chr11:58938800-58940400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:58938800-58940400	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr11:58938800-58940400	Active TSS	Brain Hippocampus Middle	brain
14	chr11:58938800-58941200	Active TSS	Brain Cingulate Gyrus	brain
15	chr11:58938800-58941400	Active TSS	Brain Anterior Caudate	brain
16	chr11:58938800-58941800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:58939000-58939800	Active TSS	K562	blood
18	chr11:58939000-58940000	Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:58939000-58940000	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:58939000-58940000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:58939000-58940000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:58939000-58940000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:58939000-58940000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:58939000-58940000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:58939000-58940000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:58939000-58940000	Active TSS	Pancreas	Pancrea
27	chr11:58939000-58940000	Active TSS	Right Ventricle	heart
28	chr11:58939000-58940000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr11:58939000-58940000	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr11:58939000-58940000	Active TSS	Osteobl	bone
31	chr11:58939000-58940200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:58939000-58940200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:58939000-58940200	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr11:58939000-58940200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:58939000-58940200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:58939000-58940200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:58939000-58940200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:58939000-58940200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr11:58939000-58940200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr11:58939000-58940200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:58939000-58940200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:58939000-58940200	Active TSS	Adipose Nuclei	Adipose
43	chr11:58939000-58940200	Active TSS	Colonic Mucosa	Colon
44	chr11:58939000-58940200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr11:58939000-58940200	Active TSS	Fetal Muscle Trunk	muscle
46	chr11:58939000-58940200	Active TSS	Fetal Muscle Leg	muscle
47	chr11:58939000-58940200	Active TSS	Placenta	Placenta
48	chr11:58939000-58940200	Active TSS	Fetal Stomach	stomach
49	chr11:58939000-58940200	Active TSS	Left Ventricle	heart
50	chr11:58939000-58940200	Active TSS	Rectal Smooth Muscle	rectum

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