Variant report

Variant	rs56333192
Chromosome Location	chr11:63614916-63614917
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:63614617-63615453	MCF-7	breast:	n/a	n/a
2	NFIC	chr11:63614560-63615323	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr11:63614684-63615325	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr11:63614840-63615172	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr11:63614861-63615112	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr11:63614672-63615315	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr11:63614686-63615194	MCF-7	breast:	n/a	n/a
8	FOXA1	chr11:63614756-63615201	T-47D	breast:	n/a	n/a
9	GATA3	chr11:63614727-63615271	T-47D	breast:	n/a	chr11:63614732-63614742
10	SP1	chr11:63614832-63615314	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr11:63614603-63615324	HCT-116	colon:	n/a	n/a
12	GTF2F1	chr11:63614834-63615173	H1-hESC	embryonic stem cell:	n/a	n/a
13	EP300	chr11:63614621-63615314	ECC-1	luminal epithelium:	n/a	chr11:63614730-63614744 chr11:63614734-63614743
14	NFIC	chr11:63614647-63615291	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr11:63614850-63614919	MCF-7	breast:	n/a	n/a
16	GATA3	chr11:63614671-63615224	T-47D	breast:	n/a	chr11:63614732-63614742
17	TAF1	chr11:63614687-63615197	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr11:63614743-63615184	T-47D	breast:	n/a	n/a
19	HDAC2	chr11:63614771-63615224	MCF-7	breast:	n/a	n/a
20	FOXA1	chr11:63614776-63615317	T-47D	breast:	n/a	n/a
21	SIN3A	chr11:63614908-63615288	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr11:63614704-63615257	ECC-1	luminal epithelium:	n/a	n/a
23	TBP	chr11:63614836-63615171	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:63614791-63615091	HCT-116	colon:	n/a	n/a
25	POLR2A	chr11:63614865-63615192	H1-hESC	embryonic stem cell:	n/a	n/a
26	NR2F2	chr11:63614736-63615274	MCF-7	breast:	n/a	n/a
27	ATF2	chr11:63614597-63615165	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr11:63614659-63615293	T-47D	breast:	n/a	chr11:63614730-63614744 chr11:63614734-63614743
29	MAX	chr11:63614727-63615242	ECC-1	luminal epithelium:	n/a	n/a
30	SP1	chr11:63614712-63615345	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF217	chr11:63614770-63615206	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63614265..63617185-chr11:63623129..63625400,2	MCF-7	breast:
2	chr11:63613491..63616107-chr11:63702849..63704991,2	MCF-7	breast:
3	chr11:63614156..63616576-chr11:63619519..63621542,3	K562	blood:
4	chr11:63613512..63616432-chr11:63669939..63672564,2	MCF-7	breast:
5	chr11:63612869..63614930-chr11:63654118..63656036,2	MCF-7	breast:
6	chr11:63612581..63617250-chr11:63617280..63622514,6	MCF-7	breast:
7	chr11:63578410..63581843-chr11:63612969..63616771,3	MCF-7	breast:
8	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
9	chr11:63579371..63582235-chr11:63612121..63615192,3	K562	blood:
10	chr11:63610591..63619595-chr11:63634759..63639809,13	MCF-7	breast:
11	chr11:63614536..63615532-chr11:63636746..63637477,2	MCF-7	breast:
12	chr11:63605094..63609854-chr11:63611414..63617957,11	K562	blood:

No data

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000072518	Chromatin interaction
ENSG00000168005	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58017969	0.89[AFR][1000 genomes]
rs58508927	0.89[AFR][1000 genomes]
rs59006502	1.00[AFR][1000 genomes]
rs7122132	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr11:63608400-63618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:63609200-63616600	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:63609400-63615400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
4	chr11:63609400-63618400	Weak transcription	Ovary	ovary
5	chr11:63609600-63619200	Weak transcription	HSMMtube	muscle
6	chr11:63609600-63629600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
8	chr11:63610400-63616600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:63611000-63620200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:63611800-63617400	Strong transcription	Fetal Stomach	stomach
11	chr11:63611800-63629800	Weak transcription	Aorta	Aorta
12	chr11:63612000-63617200	Enhancers	Pancreas	Pancrea
13	chr11:63612000-63618000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:63612600-63616800	Enhancers	Placenta	Placenta
15	chr11:63612600-63618400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:63613000-63615000	Weak transcription	Fetal Lung	lung
17	chr11:63613000-63615200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:63613000-63618400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:63613000-63618600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:63613000-63622600	Weak transcription	Brain Germinal Matrix	brain
21	chr11:63613200-63615000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:63613200-63615000	Weak transcription	Small Intestine	intestine
23	chr11:63613200-63615200	Weak transcription	Colonic Mucosa	Colon
24	chr11:63613200-63616600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:63613200-63625600	Weak transcription	HUVEC	blood vessel
26	chr11:63613200-63626200	Weak transcription	NHLF	lung
27	chr11:63613200-63632400	Weak transcription	Fetal Brain Female	brain
28	chr11:63613200-63633000	Weak transcription	HSMM	muscle
29	chr11:63613400-63615000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:63613400-63615200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:63613400-63617000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:63613400-63618200	Weak transcription	Primary B cells from cord blood	blood
33	chr11:63613400-63618200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:63613400-63618600	Weak transcription	Osteobl	bone
35	chr11:63613400-63619000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:63613400-63619000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:63613600-63615000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:63613600-63615000	Weak transcription	Spleen	Spleen
39	chr11:63613600-63615400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:63613600-63615600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:63613600-63615800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr11:63613600-63616600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:63613600-63618200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:63613600-63618400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:63613600-63619000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:63613800-63615000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:63613800-63616400	Weak transcription	Thymus	Thymus
48	chr11:63613800-63616800	Weak transcription	GM12878-XiMat	blood
49	chr11:63613800-63618200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:63613800-63618400	Weak transcription	K562	blood

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