Variant report

Variant	rs550715067
Chromosome Location	chr11:58939850-58939851
allele	G/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	SIN3A	chr11:58938945-58942122	H1-hESC	embryonic stem cell:	n/a	chr11:58939520-58939533 chr11:58941266-58941279
2	MTA3	chr11:58938544-58939888	GM12878	blood:	n/a	n/a
3	CCNT2	chr11:58938942-58940172	K562	blood:	n/a	chr11:58939582-58939591 chr11:58939560-58939569
4	SMARCB1	chr11:58939077-58941966	Hela-S3	cervix:	n/a	n/a
5	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
6	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
7	POLR2A	chr11:58938795-58945281	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:58938963-58941106	GM19099	blood:	n/a	n/a
9	ZBTB7A	chr11:58939386-58940023	K562	blood:	n/a	n/a
10	MAX	chr11:58938768-58940390	A549	lung:	n/a	chr11:58939511-58939521
11	POLR2A	chr11:58939413-58939859	HCT-116	colon:	n/a	n/a
12	POLR2A	chr11:58938940-58939899	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:58939087-58942313	GM12878	blood:	n/a	n/a
14	YY1	chr11:58939290-58939864	HepG2	liver:	n/a	n/a
15	FOXA1	chr11:58939522-58939858	HepG2	liver:	n/a	n/a
16	MAZ	chr11:58938904-58940204	Hela-S3	cervix:	n/a	chr11:58939511-58939521
17	POLR2A	chr11:58938854-58939885	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:58939192-58941003	GM18505	blood:	n/a	n/a
19	POLR2A	chr11:58938860-58941234	GM12892	blood:	n/a	n/a
20	MAZ	chr11:58938731-58942643	IMR90	lung:	n/a	chr11:58939511-58939521 chr11:58942531-58942541
21	E2F6	chr11:58938972-58939879	A549	lung:	n/a	chr11:58939440-58939449
22	YY1	chr11:58938888-58940427	GM12892	blood:	n/a	chr11:58940048-58940059
23	POLR2A	chr11:58938977-58941533	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:58939309-58941052	GM12878	blood:	n/a	n/a
25	BCLAF1	chr11:58938681-58939885	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:58939029-58941679	GM19193	blood:	n/a	n/a
27	POLR2A	chr11:58938836-58941358	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr11:58938902-58943332	GM12878	blood:	n/a	n/a
29	MAX	chr11:58938784-58939932	HCT-116	colon:	n/a	chr11:58939511-58939521
30	CTCF	chr11:58938729-58939868	HCT-116	colon:	n/a	chr11:58939063-58939081 chr11:58939066-58939079 chr11:58939066-58939075 chr11:58939106-58939116 chr11:58939064-58939080 chr11:58939508-58939521 chr11:58939068-58939078
31	ELF1	chr11:58938968-58941537	GM12878	blood:	n/a	n/a
32	MXI1	chr11:58938770-58940352	IMR90	lung:	n/a	n/a
33	MAX	chr11:58938889-58939853	H1-hESC	embryonic stem cell:	n/a	chr11:58939511-58939521
34	CHD1	chr11:58939062-58941144	GM12878	blood:	n/a	n/a
35	BCLAF1	chr11:58938831-58939880	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:58938964-58939865	GM12891	blood:	n/a	n/a
37	STAT5A	chr11:58939312-58939869	GM12878	blood:	n/a	n/a
38	MAX	chr11:58938953-58939908	ECC-1	luminal epithelium:	n/a	chr11:58939511-58939521
39	MXI1	chr11:58938918-58940194	HepG2	liver:	n/a	n/a
40	RAD21	chr11:58938752-58939866	HCT-116	colon:	n/a	chr11:58939067-58939080 chr11:58939064-58939083 chr11:58939507-58939521 chr11:58939065-58939079 chr11:58939069-58939079
41	PAX5	chr11:58938946-58940468	GM12892	blood:	n/a	chr11:58939080-58939090
42	POLR2A	chr11:58938929-58942075	GM12891	blood:	n/a	n/a
43	SMC3	chr11:58938689-58939852	SK-N-SH	brain:	n/a	chr11:58939069-58939079 chr11:58939103-58939117 chr11:58939065-58939079
44	YY1	chr11:58938921-58939897	GM12878	blood:	n/a	n/a
45	E2F6	chr11:58939287-58939860	H1-hESC	embryonic stem cell:	n/a	chr11:58939440-58939449
46	HMGN3	chr11:58938957-58939902	K562	blood:	n/a	n/a
47	FOXA2	chr11:58939291-58940052	A549	lung:	n/a	n/a
48	POLR2A	chr11:58939009-58942802	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:58938873-58939944	GM12891	blood:	n/a	n/a
50	POLR2A	chr11:58938806-58945009	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58939818-58939868	AG10803	skin:	n/a
2	chr11:58939818-58939868	SK-N-SH	brain:	n/a
3	chr11:58939802-58939852	H1-hESC	embryonic stem cell:	embryo
4	chr11:58939818-58939868	NHDF-neo	bronchial:	n/a
5	chr11:58939802-58939852	GM12892	blood:	n/a
6	chr11:58939802-58939852	HCT-116	colon:	n/a
7	chr11:58939802-58939852	HepG2	liver:	n/a
8	chr11:58939802-58939852	GM12891	blood:	n/a
9	chr11:58939802-58939852	ovcar-3	ovarian:	n/a
10	chr11:58939818-58939868	SK-N-MC	brain:	n/a
11	chr11:58939802-58939852	PANC-1	pancreas:	n/a
12	chr11:58939802-58939852	Jurkat	blood:	n/a
13	chr11:58939802-58939852	SK-N-MC	brain:	n/a
14	chr11:58939818-58939868	Hela-S3	cervix:	n/a
15	chr11:58939802-58939852	ProgFib	skin:	n/a
16	chr11:58939802-58939852	SAEC	small airway:	n/a
17	chr11:58939802-58939852	SK-N-SH_RA	brain:	n/a
18	chr11:58939802-58939852	NH-A	brain:	n/a
19	chr11:58939818-58939868	Jurkat	blood:	n/a
20	chr11:58939802-58939852	A549	lung:	n/a
21	chr11:58939802-58939852	Hela-S3	cervix:	n/a
22	chr11:58939802-58939852	ECC-1	luminal epithelium:	n/a
23	chr11:58939802-58939852	AG09319	gingival:	n/a
24	chr11:58939802-58939852	BJ	skin:	n/a
25	chr11:58939802-58939852	HRCEpiC	kidney:	n/a
26	chr11:58939818-58939868	HUVEC	blood vessel:	n/a
27	chr11:58939802-58939852	MCF10A-Er-Src	breast:	n/a
28	chr11:58939818-58939868	PFSK-1	brain:	n/a
29	chr11:58939818-58939868	PANC-1	pancreas:	n/a
30	chr11:58939818-58939868	HIPEpiC	eye:	n/a
31	chr11:58939818-58939868	HepG2	liver:	n/a
32	chr11:58939802-58939852	PrEC	prostate:	n/a
33	chr11:58939802-58939852	Caco-2	colon:	n/a
34	chr11:58939818-58939868	K562	blood:	n/a
35	chr11:58939802-58939852	AG04449	skin:	fetal
36	chr11:58939802-58939852	HUVEC	blood vessel:	n/a
37	chr11:58939818-58939868	HMEC	breast:	n/a
38	chr11:58939818-58939868	BJ	skin:	n/a
39	chr11:58939802-58939852	HRPEpiC	eye:	n/a
40	chr11:58939818-58939868	AG04450	lung:	fetal
41	chr11:58939818-58939868	HL-60	blood:	n/a
42	chr11:58939802-58939852	NB4	blood:	n/a
43	chr11:58939802-58939852	PFSK-1	brain:	n/a
44	chr11:58939802-58939852	HCM	heart:	n/a
45	chr11:58939818-58939868	U87	brain:	n/a
46	chr11:58939818-58939868	SKMC	muscle:	n/a
47	chr11:58939818-58939868	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:58939802-58939852	RPTEC	kidney:	n/a
49	chr11:58939818-58939868	ovcar-3	ovarian:	n/a
50	chr11:58939818-58939868	HCPEpiC	choroid plexus:	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:124 , 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	chr11:58938800-58940200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:58938800-58940200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:58938800-58940200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:58938800-58940200	Active TSS	Primary T cells from cord blood	blood
6	chr11:58938800-58940200	Active TSS	Brain Angular Gyrus	brain
7	chr11:58938800-58940200	Active TSS	Brain Germinal Matrix	brain
8	chr11:58938800-58940200	Active TSS	Fetal Brain Female	brain
9	chr11:58938800-58940400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:58938800-58940400	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr11:58938800-58940400	Active TSS	Brain Hippocampus Middle	brain
12	chr11:58938800-58941200	Active TSS	Brain Cingulate Gyrus	brain
13	chr11:58938800-58941400	Active TSS	Brain Anterior Caudate	brain
14	chr11:58938800-58941800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr11:58939000-58940000	Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:58939000-58940000	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:58939000-58940000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:58939000-58940000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:58939000-58940000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:58939000-58940000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:58939000-58940000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:58939000-58940000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:58939000-58940000	Active TSS	Pancreas	Pancrea
24	chr11:58939000-58940000	Active TSS	Right Ventricle	heart
25	chr11:58939000-58940000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr11:58939000-58940000	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:58939000-58940000	Active TSS	Osteobl	bone
28	chr11:58939000-58940200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:58939000-58940200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:58939000-58940200	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr11:58939000-58940200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:58939000-58940200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:58939000-58940200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:58939000-58940200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:58939000-58940200	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:58939000-58940200	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr11:58939000-58940200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:58939000-58940200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:58939000-58940200	Active TSS	Adipose Nuclei	Adipose
40	chr11:58939000-58940200	Active TSS	Colonic Mucosa	Colon
41	chr11:58939000-58940200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:58939000-58940200	Active TSS	Fetal Muscle Trunk	muscle
43	chr11:58939000-58940200	Active TSS	Fetal Muscle Leg	muscle
44	chr11:58939000-58940200	Active TSS	Placenta	Placenta
45	chr11:58939000-58940200	Active TSS	Fetal Stomach	stomach
46	chr11:58939000-58940200	Active TSS	Left Ventricle	heart
47	chr11:58939000-58940200	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:58939000-58940200	Active TSS	Right Atrium	heart
49	chr11:58939000-58940200	Active TSS	Spleen	Spleen
50	chr11:58939000-58940200	Active TSS	HepG2	liver

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