Variant report

Variant	rs60163837
Chromosome Location	chr11:71783163-71783164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:71783097-71783853	HCT-116	colon:	n/a	n/a
2	TCF12	chr11:71783015-71783882	SK-N-SH	brain:	n/a	n/a
3	SP1	chr11:71783104-71783991	HCT-116	colon:	n/a	n/a
4	KAP1	chr11:71783158-71783624	U2OS	brain:	n/a	n/a
5	POLR2A	chr11:71782972-71783831	HUVEC	blood vessel:	n/a	n/a
6	CBX3	chr11:71783110-71783893	HCT-116	colon:	n/a	n/a
7	FOS	chr11:71783100-71783721	HUVEC	blood vessel:	n/a	n/a
8	CEBPB	chr11:71783105-71783915	HCT-116	colon:	n/a	n/a
9	JUN	chr11:71783122-71783676	HUVEC	blood vessel:	n/a	n/a
10	FOSL1	chr11:71783129-71783869	HCT-116	colon:	n/a	n/a
11	MAX	chr11:71783040-71783892	HCT-116	colon:	n/a	n/a
12	SIN3AK20	chr11:71783085-71783814	HCT-116	colon:	n/a	n/a
13	TCF12	chr11:71783134-71783791	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:71783125-71783833	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
2	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
3	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
4	chr11:71780985..71784804-chr11:71822969..71825529,4	K562	blood:

No data

Variant related genes	Relation type
NUMA1	TF binding region
ENSG00000212089	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000206783	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs36029905	1.00[AFR][1000 genomes]
rs57438678	1.00[AFR][1000 genomes]
rs57920810	0.84[AFR][1000 genomes]
rs57956403	1.00[AFR][1000 genomes]
rs73531963	0.88[AFR][1000 genomes]
rs73531984	0.88[AFR][1000 genomes]
rs73533756	1.00[AFR][1000 genomes]
rs73533759	0.89[AFR][1000 genomes]
rs73533760	0.84[AFR][1000 genomes]
rs73533784	0.84[AFR][1000 genomes]
rs73533798	1.00[AFR][1000 genomes]
rs73537512	0.84[AFR][1000 genomes]
rs73537523	1.00[AFR][1000 genomes]
rs73539517	1.00[AFR][1000 genomes]
rs73543608	0.89[AFR][1000 genomes]
rs73543620	0.89[AFR][1000 genomes]
rs73543646	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 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	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
2	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:71770000-71783200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
7	chr11:71773200-71783200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:71778400-71789800	Weak transcription	Brain Germinal Matrix	brain
9	chr11:71779200-71784600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:71779200-71786200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:71779400-71784400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:71779400-71790200	Weak transcription	Thymus	Thymus
13	chr11:71780000-71783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:71780200-71784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:71780200-71785000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:71780400-71783600	Enhancers	Brain Hippocampus Middle	brain
17	chr11:71780400-71784600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:71780600-71783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:71780600-71784400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:71780600-71790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:71780800-71783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:71781000-71783400	Enhancers	Primary B cells from cord blood	blood
23	chr11:71781000-71784400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:71781000-71784600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:71781000-71784600	Enhancers	NHDF-Ad	bronchial
26	chr11:71781000-71790400	Weak transcription	Primary T cells from cord blood	blood
27	chr11:71781200-71783200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:71781200-71783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:71781200-71783200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:71781200-71783200	Weak transcription	Pancreas	Pancrea
31	chr11:71781200-71783200	Enhancers	HSMM	muscle
32	chr11:71781200-71783800	Enhancers	HepG2	liver
33	chr11:71781200-71789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:71781400-71783800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:71781400-71783800	Enhancers	NHLF	lung
36	chr11:71781600-71783200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:71781600-71783200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:71781600-71783200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:71781600-71783200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:71781600-71783200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:71781600-71783400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:71781600-71783600	Enhancers	Colon Smooth Muscle	Colon
43	chr11:71781600-71784000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:71781600-71784000	Enhancers	A549	lung
45	chr11:71781600-71789400	Weak transcription	Liver	Liver
46	chr11:71781600-71789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:71781800-71783200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:71781800-71783200	Weak transcription	Colonic Mucosa	Colon
49	chr11:71781800-71783200	Weak transcription	Esophagus	oesophagus
50	chr11:71781800-71783200	Weak transcription	Left Ventricle	heart

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