Variant report

Variant	rs11119986
Chromosome Location	chr1:212769955-212769956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212657982..212660814-chr1:212768286..212770089,2	K562	blood:
2	chr1:212730956..212733747-chr1:212768474..212770624,3	K562	blood:
3	chr1:212758746..212766071-chr1:212766312..212770844,12	K562	blood:
4	chr1:212729441..212732578-chr1:212767318..212772048,4	K562	blood:
5	chr1:212656733..212659516-chr1:212769214..212770797,2	MCF-7	breast:
6	chr1:212752565..212754879-chr1:212767873..212770095,2	K562	blood:
7	chr1:212759858..212760453-chr1:212769908..212770590,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260805	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10863982	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11119983	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11119984	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11807504	1.00[CEU][hapmap]
rs12026647	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12045066	1.00[ASN][1000 genomes]
rs12045087	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12045088	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12045887	0.86[ASN][1000 genomes]
rs12048268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12048272	1.00[ASN][1000 genomes]
rs12066352	0.98[ASN][1000 genomes]
rs12092971	1.00[ASN][1000 genomes]
rs12096612	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12097749	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3795837	0.81[GIH][hapmap]
rs4951454	1.00[ASN][1000 genomes]
rs4951623	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4951624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6659445	1.00[ASN][1000 genomes]
rs6682064	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6683022	1.00[ASN][1000 genomes]
rs6696022	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212766800-212771200	Enhancers	Placenta	Placenta
2	chr1:212767200-212770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:212767200-212770600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:212767400-212770400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:212767800-212770400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:212768000-212770400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:212768400-212770200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:212768600-212770000	Flanking Active TSS	Dnd41	blood
9	chr1:212768600-212770200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:212768600-212770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:212768600-212771200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:212768600-212771200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:212768600-212771400	Enhancers	Fetal Intestine Small	intestine
14	chr1:212768800-212770000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:212768800-212770000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:212768800-212770000	Enhancers	NHLF	lung
17	chr1:212768800-212770200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:212768800-212770200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:212768800-212770400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:212768800-212770400	Enhancers	Fetal Thymus	thymus
21	chr1:212768800-212770400	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:212768800-212771200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:212768800-212771400	Enhancers	Fetal Intestine Large	intestine
24	chr1:212769000-212770200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:212769000-212770200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:212769000-212770200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:212769000-212770200	Enhancers	Adipose Nuclei	Adipose
28	chr1:212769000-212770200	Enhancers	HSMMtube	muscle
29	chr1:212769000-212770400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:212769200-212770000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:212769200-212770000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:212769200-212770000	Enhancers	HMEC	breast
33	chr1:212769200-212770000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:212769200-212770200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:212769200-212770200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr1:212769200-212770400	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:212769200-212770400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:212769200-212770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:212769400-212770000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr1:212769400-212770000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:212769400-212770000	Flanking Active TSS	K562	blood
42	chr1:212769400-212770200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:212769400-212770200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:212769400-212770200	Flanking Active TSS	A549	lung
45	chr1:212769600-212770000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:212769600-212770000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:212769600-212770000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:212769600-212770000	Active TSS	Stomach Smooth Muscle	stomach
49	chr1:212769600-212770000	Flanking Active TSS	Thymus	Thymus
50	chr1:212769600-212770000	Active TSS	NH-A	brain

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