Variant report

Variant	rs3818561
Chromosome Location	chr1:151282464-151282465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:151282312-151282821	PFSK-1	brain:	n/a	n/a
2	MAZ	chr1:151281875-151283136	IMR90	lung:	n/a	n/a
3	SIN3AK20	chr1:151282281-151282606	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr1:151282331-151282577	IMR90	lung:	n/a	n/a
5	RAD21	chr1:151282396-151282595	IMR90	lung:	n/a	n/a
6	RCOR1	chr1:151281991-151283169	IMR90	lung:	n/a	n/a
7	SIN3AK20	chr1:151282266-151282623	PFSK-1	brain:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	1:151171193-151178589..1:151270864-151283078	K562	blood:
2	chr1:151277597..151281624-chr1:151282449..151285197,4	K562	blood:
3	chr1:151256587..151260574-chr1:151281324..151285332,4	MCF-7	breast:
4	chr1:151251758..151256634-chr1:151282243..151286452,9	K562	blood:
5	chr1:151257052..151260597-chr1:151281879..151285124,3	K562	blood:
6	chr1:151252187..151256441-chr1:151280113..151285472,8	MCF-7	breast:
7	chr1:151281649..151290428-chr1:151296694..151302315,21	MCF-7	breast:
8	chr1:151279180..151282916-chr1:151286769..151288815,3	MCF-7	breast:
9	chr1:151257199..151260205-chr1:151281571..151283961,3	MCF-7	breast:
10	chr1:151281469..151284307-chr1:151318229..151320963,3	MCF-7	breast:
11	chr1:151281037..151283051-chr1:151312631..151314939,2	K562	blood:
12	chr1:151281635..151282478-chr1:151313103..151313862,2	K562	blood:
13	chr1:151273498..151277392-chr1:151280205..151285145,5	K562	blood:
14	chr1:151252318..151256662-chr1:151278805..151282568,3	MCF-7	breast:
15	chr1:151225700..151227284-chr1:151281639..151283982,2	K562	blood:
16	chr1:151029555..151032227-chr1:151282162..151284452,2	MCF-7	breast:

No data

Variant related genes	Relation type
PI4KB	TF binding region
ENSG00000273481	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000159352	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1539493	1.00[CEU][hapmap]
rs1571294	1.00[CEU][hapmap]
rs16833248	1.00[CEU][hapmap]
rs16833263	1.00[CEU][hapmap]
rs16833274	1.00[CEU][hapmap]
rs2296840	1.00[CEU][hapmap]
rs3748549	1.00[CEU][hapmap]
rs3811404	1.00[CEU][hapmap]
rs4147451	1.00[CEU][hapmap]
rs4354539	1.00[CEU][hapmap]
rs6704126	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151257200-151283000	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:151257200-151297600	Strong transcription	Dnd41	blood
3	chr1:151257400-151283600	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr1:151257600-151293600	Strong transcription	Brain Germinal Matrix	brain
5	chr1:151258000-151283200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:151258000-151283600	Strong transcription	Lung	lung
7	chr1:151258200-151297200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:151258400-151283000	Strong transcription	Colonic Mucosa	Colon
9	chr1:151258400-151293400	Strong transcription	Fetal Brain Female	brain
10	chr1:151258400-151297800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:151260000-151298000	Strong transcription	Thymus	Thymus
12	chr1:151261600-151283400	Strong transcription	Spleen	Spleen
13	chr1:151261600-151297800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:151262000-151298000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:151262400-151283400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:151262400-151283600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:151262400-151283800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:151262600-151284400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:151262600-151297600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:151262800-151283400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:151262800-151283600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:151265800-151298000	Strong transcription	Fetal Thymus	thymus
23	chr1:151266200-151284400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:151266400-151283800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:151268200-151282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:151268200-151283000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:151269200-151283400	Strong transcription	NHEK	skin
28	chr1:151270600-151289400	Strong transcription	GM12878-XiMat	blood
29	chr1:151271400-151298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:151273200-151283600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:151273200-151298000	Strong transcription	Primary T cells from cord blood	blood
32	chr1:151273800-151282600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:151273800-151297800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:151274000-151283600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:151274000-151283600	Strong transcription	HUVEC	blood vessel
36	chr1:151274400-151282800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:151274400-151295000	Strong transcription	Primary B cells from cord blood	blood
38	chr1:151274600-151288800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr1:151275800-151282800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:151277600-151282600	Strong transcription	HMEC	breast
41	chr1:151277600-151282800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:151277800-151283200	Strong transcription	Hela-S3	cervix
43	chr1:151279200-151283000	Weak transcription	Fetal Brain Male	brain
44	chr1:151280200-151299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:151280400-151282600	Weak transcription	Small Intestine	intestine
46	chr1:151280400-151282800	Weak transcription	Fetal Heart	heart
47	chr1:151280400-151299000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:151280600-151285600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:151280800-151282600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:151280800-151282800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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