Variant report

Variant	rs574960027
Chromosome Location	chr11:74953306-74953307
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	MAX	chr11:74952029-74953350	A549	lung:	n/a	n/a
2	MYC	chr11:74952294-74953531	A549	lung:	n/a	n/a
3	REST	chr11:74951784-74953454	H1-neurons	neurons:	n/a	chr11:74953370-74953383 chr11:74952124-74952137 chr11:74952148-74952161 chr11:74952066-74952076 chr11:74952103-74952116
4	JUN	chr11:74952189-74953323	K562	blood:	n/a	n/a
5	POLR2A	chr11:74952037-74953321	H1-neurons	neurons:	n/a	n/a
6	E2F6	chr11:74951959-74953483	K562	blood:	n/a	chr11:74952080-74952090 chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
7	CHD1	chr11:74952511-74953352	IMR90	lung:	n/a	n/a
8	E2F6	chr11:74952022-74953660	H1-hESC	embryonic stem cell:	n/a	chr11:74952080-74952090 chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
9	CTCF	chr11:74951921-74953536	SK-N-SH	brain:	n/a	chr11:74952029-74952038 chr11:74952349-74952362 chr11:74952351-74952361 chr11:74952174-74952187
10	REST	chr11:74952336-74953313	ECC-1	luminal epithelium:	n/a	n/a
11	SMC3	chr11:74952027-74953312	SK-N-SH	brain:	n/a	chr11:74952352-74952362
12	CTBP2	chr11:74951385-74953406	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr11:74952084-74953718	H1-hESC	embryonic stem cell:	n/a	chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
14	HMGN3	chr11:74951622-74953344	K562	blood:	n/a	n/a
15	CTCF	chr11:74952289-74953637	A549	lung:	n/a	chr11:74952349-74952362 chr11:74952351-74952361
16	RCOR1	chr11:74952484-74953651	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74733622..74734624-chr11:74952400..74953312,9	MCF-7	breast:
2	chr11:74953050..74955146-chr11:75048496..75050415,2	K562	blood:
3	chr11:74920713..74922645-chr11:74953043..74955609,2	MCF-7	breast:
4	chr11:74742652..74743217-chr11:74952410..74953405,2	K562	blood:
5	chr11:74925000..74926013-chr11:74952324..74953354,12	MCF-7	breast:
6	chr11:74640083..74642436-chr11:74952777..74954746,3	MCF-7	breast:
7	chr11:74855250..74856195-chr11:74952793..74953318,2	K562	blood:
8	chr11:74952768..74954538-chr11:74955270..74959114,3	K562	blood:
9	chr11:74659830..74661713-chr11:74952303..74954332,2	MCF-7	breast:
10	chr11:74855244..74856442-chr11:74952713..74953475,5	MCF-7	breast:
11	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:

Variant related genes	Relation type
ENSG00000255136	TF binding region
ENSG00000166435	Chromatin interaction
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	esv3338705	chr11:74950304-74954802	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3357620	chr11:74951054-74954252	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3416910	chr11:74951204-74954302	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3322804	chr11:74951829-74954677	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
2	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:74951400-74953400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:74951400-74953400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
5	chr11:74951400-74953400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:74951400-74953400	Active TSS	Right Atrium	heart
7	chr11:74951400-74953600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:74951400-74953600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:74951400-74953600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:74951400-74953600	Enhancers	Liver	Liver
13	chr11:74951600-74953400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:74951600-74953400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:74951600-74953400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:74951600-74953400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:74951600-74953400	Active TSS	Brain Cingulate Gyrus	brain
18	chr11:74951600-74953400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:74951600-74953400	Bivalent/Poised TSS	HepG2	liver
20	chr11:74951600-74953400	Bivalent/Poised TSS	Osteobl	bone
21	chr11:74951600-74953600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:74951800-74953400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:74951800-74953400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:74951800-74953400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:74951800-74953400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:74951800-74953400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:74951800-74953600	Bivalent/Poised TSS	HSMM	muscle
28	chr11:74952000-74953400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:74952000-74953400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:74952000-74953400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:74952000-74953400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr11:74952000-74953400	Active TSS	Duodenum Mucosa	Duodenum
33	chr11:74952000-74953400	Active TSS	K562	blood
34	chr11:74952000-74953600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr11:74952200-74953400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:74952200-74953400	Active TSS	Fetal Brain Female	brain
37	chr11:74952200-74953400	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr11:74952200-74953400	Active TSS	A549	lung
39	chr11:74952200-74953600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:74952400-74953400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:74952400-74953400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:74952400-74953600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:74952600-74953400	Active TSS	Primary B cells from cord blood	blood
44	chr11:74952600-74953400	Active TSS	Aorta	Aorta
45	chr11:74952600-74953600	Active TSS	Hela-S3	cervix
46	chr11:74952800-74953400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:74952800-74953400	Active TSS	Colon Smooth Muscle	Colon
48	chr11:74952800-74953400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr11:74953000-74953400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:74953000-74953400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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