Variant report

Variant	rs9380152
Chromosome Location	chr6:11234035-11234036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:11226011-11234191	HepG2	liver:	n/a	n/a
2	NR2F2	chr6:11232614-11234089	HepG2	liver:	n/a	n/a
3	GATA3	chr6:11233915-11235041	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr6:11232584-11234195	HepG2	liver:	n/a	n/a
5	TCF12	chr6:11233988-11235024	SK-N-SH	brain:	n/a	chr6:11234301-11234309
6	SIN3AK20	chr6:11234027-11234936	MCF-7	breast:	n/a	n/a
7	NFIC	chr6:11234027-11234909	SK-N-SH	brain:	n/a	n/a
8	MBD4	chr6:11232128-11234152	HepG2	liver:	n/a	n/a
9	GATA3	chr6:11234032-11234902	MCF-7	breast:	n/a	n/a
10	CREB1	chr6:11232356-11234078	HepG2	liver:	n/a	n/a
11	RAD21	chr6:11232596-11234063	HepG2	liver:	n/a	n/a
12	FOXA1	chr6:11233159-11234035	HepG2	liver:	n/a	chr6:11233437-11233449
13	REST	chr6:11232533-11234129	HepG2	liver:	n/a	chr6:11233495-11233503 chr6:11232797-11232817
14	MAX	chr6:11232220-11234087	HepG2	liver:	n/a	n/a
15	MXI1	chr6:11230990-11234432	SK-N-SH	brain:	n/a	chr6:11232495-11232510
16	POLR2A	chr6:11230529-11234639	HepG2	liver:	n/a	n/a
17	MAZ	chr6:11232551-11234147	HepG2	liver:	n/a	n/a
18	MYBL2	chr6:11232351-11234274	HepG2	liver:	n/a	n/a
19	SMC3	chr6:11231957-11234079	HepG2	liver:	n/a	n/a
20	CEBPZ	chr6:11233031-11234105	HepG2	liver:	n/a	n/a
21	MYBL2	chr6:11231821-11234730	HepG2	liver:	n/a	n/a
22	TEAD4	chr6:11232105-11234678	HepG2	liver:	n/a	n/a
23	NR2F2	chr6:11233999-11234487	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11093400..11095150-chr6:11232098..11234841,2	MCF-7	breast:
2	chr6:11233234..11235237-chr6:11235574..11238401,2	K562	blood:
3	chr6:11097080..11099799-chr6:11233004..11235135,2	K562	blood:
4	chr6:11229690..11234119-chr6:11380884..11384431,5	MCF-7	breast:
5	chr6:11173246..11175839-chr6:11231318..11234093,2	MCF-7	breast:
6	chr6:11233871..11236036-chr6:11265785..11268421,2	MCF-7	breast:
7	chr6:11233234..11236036-chr6:11236901..11238586,2	K562	blood:
8	chr6:11233107..11235144-chr6:11339489..11341330,2	MCF-7	breast:

No data

Variant related genes	Relation type
NEDD9	TF binding region
ENSG00000247925	Chromatin interaction
ENSG00000111859	Chromatin interaction
ENSG00000224531	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11970705	0.83[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak 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 target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11229000-11234200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:11232000-11234200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr6:11233200-11234600	Enhancers	Spleen	Spleen
4	chr6:11233200-11235200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:11233200-11236400	Weak transcription	Small Intestine	intestine
6	chr6:11233400-11234200	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr6:11233400-11234200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr6:11233400-11234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:11233400-11234400	Flanking Active TSS	Dnd41	blood
10	chr6:11233400-11234600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:11233400-11235000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:11233400-11237200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:11233600-11234200	Enhancers	Lung	lung
14	chr6:11233600-11234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:11233600-11234400	Enhancers	Aorta	Aorta
16	chr6:11233600-11234400	Enhancers	Esophagus	oesophagus
17	chr6:11233600-11234400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:11233600-11234400	Flanking Active TSS	GM12878-XiMat	blood
19	chr6:11233600-11234600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr6:11233600-11234600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:11233600-11234600	Enhancers	Fetal Muscle Leg	muscle
22	chr6:11233600-11234600	Enhancers	Pancreas	Pancrea
23	chr6:11233600-11234800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:11233600-11241800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:11233800-11234200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:11233800-11234200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:11233800-11234200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:11233800-11234200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:11233800-11234200	Enhancers	Liver	Liver
30	chr6:11233800-11234200	Enhancers	Brain Hippocampus Middle	brain
31	chr6:11233800-11234200	Enhancers	NH-A	brain
32	chr6:11233800-11234400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:11233800-11234400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:11233800-11234400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:11233800-11234400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:11233800-11234400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:11233800-11234400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr6:11233800-11234400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:11233800-11234400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:11233800-11234400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:11233800-11234400	Enhancers	Brain Angular Gyrus	brain
42	chr6:11233800-11234400	Enhancers	Brain Substantia Nigra	brain
43	chr6:11233800-11234400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:11233800-11234400	Enhancers	Left Ventricle	heart
45	chr6:11233800-11234400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr6:11233800-11234400	Enhancers	Right Ventricle	heart
47	chr6:11233800-11234400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:11233800-11234400	Enhancers	HSMM	muscle
49	chr6:11233800-11234400	Enhancers	NHDF-Ad	bronchial
50	chr6:11233800-11234600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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