Variant report

Variant	rs1936047
Chromosome Location	chr1:112946359-112946360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112937871..112939945-chr1:112944529..112946722,2	K562	blood:
2	chr1:112945712..112947668-chr1:112948180..112951090,2	MCF-7	breast:
3	chr1:112940392..112943025-chr1:112944284..112946532,3	K562	blood:

Variant related genes	Relation type
ENSG00000143079	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11102490	1.00[MEX][hapmap]
rs11102493	1.00[MEX][hapmap]
rs1175632	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175640	1.00[MEX][hapmap]
rs1175642	1.00[MEX][hapmap]
rs1177814	0.84[MKK][hapmap]
rs12094504	1.00[MEX][hapmap]
rs17030350	1.00[MEX][hapmap]
rs17030446	1.00[MEX][hapmap]
rs17030475	1.00[MEX][hapmap]
rs1777610	0.86[MKK][hapmap]
rs6693450	1.00[MEX][hapmap]
rs7542272	1.00[MEX][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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112940000-112950600	Weak transcription	Lung	lung
2	chr1:112940000-112952200	Weak transcription	Esophagus	oesophagus
3	chr1:112940000-112954400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:112940000-112956400	Weak transcription	Left Ventricle	heart
5	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:112940200-112958400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:112940600-112958800	Weak transcription	Colonic Mucosa	Colon
8	chr1:112940600-112962000	Weak transcription	Psoas Muscle	Psoas
9	chr1:112940800-112946800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:112940800-112955000	Weak transcription	Adipose Nuclei	Adipose
11	chr1:112941000-112946400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:112941000-112946400	Weak transcription	Aorta	Aorta
13	chr1:112941000-112949000	Weak transcription	Fetal Lung	lung
14	chr1:112941000-112949000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:112941200-112946600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:112941200-112949200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:112941200-112955000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:112941200-112955000	Weak transcription	Fetal Kidney	kidney
19	chr1:112941400-112954400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:112941400-112956400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:112941400-112959400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:112941600-112959600	Weak transcription	Fetal Brain Female	brain
23	chr1:112942400-112952200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
25	chr1:112942600-112946400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:112942600-112947000	Weak transcription	Right Atrium	heart
27	chr1:112942600-112954800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:112942600-112955400	Weak transcription	Fetal Intestine Large	intestine
29	chr1:112942600-112966400	Weak transcription	Spleen	Spleen
30	chr1:112942600-112967000	Weak transcription	Pancreas	Pancrea
31	chr1:112942800-112946600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:112943000-112947000	Weak transcription	Stomach Mucosa	stomach
33	chr1:112943400-112949200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:112943400-112950400	Enhancers	NHDF-Ad	bronchial
35	chr1:112943800-112946600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:112943800-112946600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:112943800-112946600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:112943800-112947400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:112943800-112947600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:112944000-112946400	Enhancers	HSMMtube	muscle
41	chr1:112944000-112947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:112944200-112947400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:112944200-112948000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:112944600-112946400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:112944600-112946800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:112944600-112946800	Genic enhancers	HSMM	muscle
47	chr1:112944600-112947000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:112944600-112947200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:112944600-112949000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:112944800-112946600	Weak transcription	Brain Inferior Temporal Lobe	brain

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