Variant report

Variant	rs190768833
Chromosome Location	chr11:73881400-73881401
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	POLR2A	chr11:73880935-73882779	H1-neurons	neurons:	n/a	n/a
2	MAZ	chr11:73880854-73883174	IMR90	lung:	n/a	n/a
3	KAP1	chr11:73880955-73882677	HEK293	kidney:	n/a	chr11:73882010-73882018
4	POLR2A	chr11:73881055-73881501	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr11:73881306-73882813	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:73881394-73883007	HUVEC	blood vessel:	n/a	n/a
7	REST	chr11:73881390-73883024	A549	lung:	n/a	chr11:73882348-73882357
8	ZKSCAN1	chr11:73880960-73881507	Hela-S3	cervix:	n/a	n/a
9	REST	chr11:73880785-73883077	H1-neurons	neurons:	n/a	chr11:73882348-73882357
10	TBP	chr11:73881348-73882511	Hela-S3	cervix:	n/a	n/a
11	SIN3A	chr11:73881155-73882847	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF263	chr11:73880611-73882527	HEK293-T-REx	kidney:	n/a	n/a
13	POLR2A	chr11:73881355-73883550	PBDE	blood:	n/a	n/a
14	BCL3	chr11:73881363-73882653	A549	lung:	n/a	chr11:73881941-73881954 chr11:73882270-73882279 chr11:73881938-73881951
15	MXI1	chr11:73880775-73883327	IMR90	lung:	n/a	chr11:73881654-73881669
16	PML	chr11:73881324-73882824	GM12878	blood:	n/a	chr11:73882010-73882018
17	ELK1	chr11:73881380-73882639	Hela-S3	cervix:	n/a	chr11:73882270-73882279 chr11:73882270-73882279
18	POLR2A	chr11:73880951-73882799	H1-neurons	neurons:	n/a	n/a
19	MXI1	chr11:73880716-73883772	SK-N-SH	brain:	n/a	chr11:73881654-73881669
20	HCFC1	chr11:73880709-73884271	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73800042..73802110-chr11:73880491..73883383,2	MCF-7	breast:
2	chr11:73692800..73696318-chr11:73880815..73883748,5	MCF-7	breast:
3	chr11:73693723..73696564-chr11:73880690..73883464,7	K562	blood:
4	chr11:73691455..73695821-chr11:73881160..73884452,10	K562	blood:

Variant related genes	Relation type
PPME1	TF binding region
ENSG00000175567	Chromatin interaction
ENSG00000168014	Chromatin interaction

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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv3369786	chr11:73881132-73881833	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3462563	chr11:73881195-73881791	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3462574	chr11:73881195-73881791	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3377699	chr11:73881256-73881720	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73879800-73881400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:73880000-73881400	Flanking Active TSS	Dnd41	blood
3	chr11:73880200-73886600	Active TSS	HSMMtube	muscle
4	chr11:73880400-73881400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:73880400-73881400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:73880400-73883000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:73880600-73881400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:73880600-73881400	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr11:73880600-73881400	Flanking Active TSS	Fetal Brain Female	brain
10	chr11:73880600-73881400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:73880600-73881400	Flanking Active TSS	Hela-S3	cervix
12	chr11:73880600-73881400	Flanking Active TSS	HUVEC	blood vessel
13	chr11:73880600-73881400	Flanking Active TSS	NH-A	brain
14	chr11:73880600-73881600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:73880600-73881600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:73880600-73881800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr11:73880600-73881800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:73880600-73882000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr11:73880600-73883600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:73880600-73883600	Active TSS	Right Atrium	heart
21	chr11:73880600-73883600	Active TSS	A549	lung
22	chr11:73880600-73883800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:73880800-73881400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:73880800-73881400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:73880800-73881400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:73880800-73881400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr11:73880800-73881400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr11:73880800-73881400	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr11:73880800-73881400	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr11:73880800-73881400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:73880800-73881400	Flanking Active TSS	Fetal Brain Male	brain
32	chr11:73880800-73881400	Flanking Active TSS	Fetal Kidney	kidney
33	chr11:73880800-73881400	Flanking Active TSS	Fetal Lung	lung
34	chr11:73880800-73881400	Flanking Active TSS	Fetal Stomach	stomach
35	chr11:73880800-73881400	Flanking Active TSS	Fetal Thymus	thymus
36	chr11:73880800-73881400	Flanking Active TSS	Pancreas	Pancrea
37	chr11:73880800-73881400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:73880800-73881400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:73880800-73881400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr11:73880800-73881400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:73880800-73881400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr11:73880800-73881400	Flanking Active TSS	HMEC	breast
43	chr11:73880800-73881600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:73880800-73881600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:73880800-73881600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:73880800-73881600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:73880800-73881600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:73880800-73881600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:73880800-73881600	Enhancers	Spleen	Spleen
50	chr11:73880800-73881600	Flanking Active TSS	Osteobl	bone

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