Variant report

Variant	rs1912664
Chromosome Location	chr1:226248270-226248271
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:226248169-226248285	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr1:226248144-226248482	K562	blood:	n/a	n/a
3	POLR2A	chr1:226248188-226248479	MCF10A-Er-Src	breast:	n/a	n/a
4	USF2	chr1:226248239-226248439	Hela-S3	cervix:	n/a	n/a
5	ZNF143	chr1:226248259-226248355	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
2	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
3	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
4	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
5	chr1:226213068..226214895-chr1:226247410..226249127,2	K562	blood:
6	chr1:226203662..226205459-chr1:226246341..226248870,2	MCF-7	breast:
7	chr1:226247090..226249451-chr1:226292552..226294249,2	K562	blood:
8	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
9	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf55-1	chr1:226245769-226249546	NONHSAT009869

No data

Variant related genes	Relation type
H3F3A	TF binding region
ENSG00000143751	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4636422	1.00[EUR][1000 genomes]
rs59361210	1.00[EUR][1000 genomes]
rs61156352	1.00[EUR][1000 genomes]
rs6426101	1.00[EUR][1000 genomes]
rs6676395	1.00[EUR][1000 genomes]
rs73100562	1.00[EUR][1000 genomes]
rs7513663	1.00[EUR][1000 genomes]
rs7524997	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226222600-226248600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
3	chr1:226230000-226249200	Weak transcription	Aorta	Aorta
4	chr1:226231200-226249200	Weak transcription	Pancreas	Pancrea
5	chr1:226232000-226249200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:226232200-226249400	Weak transcription	Gastric	stomach
7	chr1:226232600-226248600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:226234600-226248800	Weak transcription	HSMM	muscle
9	chr1:226234800-226248800	Weak transcription	HSMMtube	muscle
10	chr1:226235000-226248800	Weak transcription	Colonic Mucosa	Colon
11	chr1:226235200-226248600	Weak transcription	HepG2	liver
12	chr1:226235200-226249200	Weak transcription	Small Intestine	intestine
13	chr1:226235400-226248600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:226235400-226249200	Weak transcription	Esophagus	oesophagus
15	chr1:226236200-226248600	Weak transcription	Fetal Brain Male	brain
16	chr1:226236800-226248600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:226237200-226248600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:226237600-226248800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:226238600-226249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:226240000-226248400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:226241000-226249200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:226242400-226248400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:226242400-226249200	Weak transcription	Lung	lung
24	chr1:226242600-226248600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:226242600-226248600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:226242600-226248800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:226242800-226248400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:226242800-226248600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:226242800-226248600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:226242800-226248800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:226242800-226248800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:226242800-226248800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:226242800-226249000	Weak transcription	Ovary	ovary
34	chr1:226242800-226249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:226243000-226248600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:226244000-226249400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:226244200-226248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:226244200-226248800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:226244200-226248800	Weak transcription	Thymus	Thymus
40	chr1:226245200-226248400	Weak transcription	Fetal Kidney	kidney
41	chr1:226245800-226248800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:226246000-226249000	Weak transcription	Right Ventricle	heart
43	chr1:226246200-226248800	Weak transcription	NHEK	skin
44	chr1:226246600-226248400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:226246800-226249000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:226247000-226248600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:226247200-226248800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:226247400-226248600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:226247600-226248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:226247600-226249200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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