Variant report

Variant	rs580850
Chromosome Location	chr11:66438921-66438922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66437106-66439399	U87	brain:	n/a	n/a
2	POLR2A	chr11:66437102-66439211	U87	brain:	n/a	n/a
3	POLR2A	chr11:66438321-66438973	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:66436972-66439009	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:66437244-66439240	K562	blood:	n/a	n/a
6	POLR2A	chr11:66432453-66439184	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:66438838-66439087	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:66438797-66438931	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66405535..66407660-chr11:66437498..66439253,3	MCF-7	breast:
2	chr11:66233510..66236487-chr11:66437433..66439085,2	K562	blood:
3	chr11:66412064..66414929-chr11:66436700..66439361,2	K562	blood:
4	chr11:66434858..66442780-chr11:66443506..66446731,13	MCF-7	breast:
5	chr11:66422028..66424888-chr11:66437074..66439023,2	K562	blood:
6	chr11:66427413..66430054-chr11:66438064..66440207,2	MCF-7	breast:

No data

Variant related genes	Relation type
RBM4B	TF binding region
ENSG00000174516	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000174547	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11227537	1.00[AMR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1700188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1791677	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45620032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs4930388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs495264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs548344	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670900	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs908693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66411800-66442800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66413000-66440400	Strong transcription	Fetal Stomach	stomach
3	chr11:66413000-66442600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:66414800-66442600	Weak transcription	Small Intestine	intestine
5	chr11:66420600-66443800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:66422200-66439400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:66424200-66439200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:66426000-66439200	Strong transcription	Primary T cells from cord blood	blood
9	chr11:66427600-66443200	Weak transcription	Stomach Mucosa	stomach
10	chr11:66434000-66443800	Weak transcription	Colonic Mucosa	Colon
11	chr11:66434000-66444600	Weak transcription	Aorta	Aorta
12	chr11:66434400-66439400	Genic enhancers	Fetal Thymus	thymus
13	chr11:66434800-66442800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:66435000-66440400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:66435200-66440600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:66435400-66442600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:66435600-66440400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:66435800-66442400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:66436000-66443200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:66436000-66444400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:66436200-66442400	Weak transcription	NH-A	brain
22	chr11:66436400-66439000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:66436400-66442400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:66436400-66442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:66436400-66442600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:66436400-66442800	Weak transcription	Right Atrium	heart
27	chr11:66436600-66439200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:66436600-66440600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:66436600-66440600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:66436600-66442200	Weak transcription	Ovary	ovary
31	chr11:66436600-66442400	Weak transcription	GM12878-XiMat	blood
32	chr11:66436600-66442600	Weak transcription	Brain Anterior Caudate	brain
33	chr11:66436600-66442600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:66436600-66442600	Weak transcription	Spleen	Spleen
35	chr11:66436600-66442600	Weak transcription	HSMMtube	muscle
36	chr11:66436600-66443400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:66436600-66443800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:66436600-66443800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:66436600-66443800	Weak transcription	Gastric	stomach
40	chr11:66436600-66443800	Weak transcription	Pancreas	Pancrea
41	chr11:66436800-66440400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:66436800-66441800	Weak transcription	Lung	lung
43	chr11:66436800-66442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:66436800-66442400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:66436800-66442400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:66436800-66442400	Weak transcription	Fetal Intestine Small	intestine
47	chr11:66436800-66442600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:66436800-66442600	Weak transcription	Adipose Nuclei	Adipose
49	chr11:66436800-66442600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:66436800-66442600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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