Variant report

Variant	rs946542
Chromosome Location	chr1:165826745-165826746
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165826478..165828837-chr1:165829538..165831433,3	K562	blood:
2	chr1:165795539..165799937-chr1:165823038..165829386,11	MCF-7	breast:
3	chr1:165826311..165829287-chr1:165838167..165840920,2	K562	blood:
4	chr1:165818712..165822734-chr1:165823086..165826851,4	MCF-7	breast:
5	chr1:165824047..165827978-chr1:165829041..165832736,3	K562	blood:
6	chr1:165796460..165798954-chr1:165824565..165827168,2	K562	blood:
7	chr1:165806407..165808791-chr1:165825833..165828310,2	MCF-7	breast:
8	chr1:165822136..165824706-chr1:165825180..165827276,2	K562	blood:
9	chr1:165825199..165827895-chr1:165834221..165836941,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16851839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16855209	1.00[MEX][hapmap]
rs872178	1.00[CEU][hapmap];1.00[CHB][hapmap]

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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	esv2755529	chr1:165813862-165858354	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv437246	chr1:165822891-165860813	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165818000-165829200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:165818600-165828000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:165820400-165827600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:165820800-165828000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:165821000-165832200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:165821400-165827200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:165821800-165827800	Enhancers	NHLF	lung
8	chr1:165821800-165828000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:165821800-165829400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:165822000-165828200	Enhancers	NHDF-Ad	bronchial
11	chr1:165822200-165827400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:165822200-165827600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:165823200-165827200	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:165823600-165828200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:165823600-165831200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:165823600-165833000	Weak transcription	Hela-S3	cervix
17	chr1:165823600-165834000	Weak transcription	Aorta	Aorta
18	chr1:165823600-165834600	Weak transcription	Fetal Stomach	stomach
19	chr1:165823800-165827000	Enhancers	Osteobl	bone
20	chr1:165823800-165829200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:165823800-165829400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:165823800-165838000	Weak transcription	Fetal Lung	lung
23	chr1:165823800-165840200	Weak transcription	HUVEC	blood vessel
24	chr1:165824600-165828400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:165824800-165826800	Enhancers	K562	blood
26	chr1:165824800-165827600	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:165824800-165828000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:165824800-165828200	Enhancers	Psoas Muscle	Psoas
29	chr1:165824800-165829200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:165824800-165829400	Enhancers	Fetal Thymus	thymus
31	chr1:165824800-165830000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:165825000-165829000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:165825000-165829000	Enhancers	Fetal Intestine Small	intestine
34	chr1:165825000-165829400	Enhancers	Thymus	Thymus
35	chr1:165825000-165829800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:165825200-165827600	Weak transcription	Placenta	Placenta
37	chr1:165825200-165827600	Enhancers	GM12878-XiMat	blood
38	chr1:165825200-165831000	Weak transcription	Brain Germinal Matrix	brain
39	chr1:165825400-165827200	Enhancers	NHEK	skin
40	chr1:165825400-165829200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:165825400-165831200	Enhancers	Fetal Intestine Large	intestine
42	chr1:165825400-165839800	Weak transcription	Primary B cells from cord blood	blood
43	chr1:165825600-165826800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:165825600-165827400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:165825600-165828000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:165825600-165828800	Enhancers	Fetal Heart	heart
47	chr1:165825600-165831200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:165825600-165837800	Weak transcription	Fetal Brain Female	brain
49	chr1:165825800-165826800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:165825800-165826800	Flanking Active TSS	A549	lung

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