Variant report

Variant	rs16845579
Chromosome Location	chr1:226247699-226247700
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:9)
LncRNA
region (count:1)
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	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
2	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
3	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
4	chr1:226217322..226219957-chr1:226246181..226248260,3	K562	blood:
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	chr1:226246636..226248213-chr1:226248216..226249940,2	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
ENSG00000143751	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000163041	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16845569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6672433	0.80[AFR][1000 genomes]
rs73083508	0.96[AFR][1000 genomes]
rs73100509	0.88[AFR][1000 genomes]
rs73100530	0.96[AFR][1000 genomes];1.00[AMR][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:92 , 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	chr1:226226000-226248000	Weak transcription	Left Ventricle	heart
3	chr1:226229600-226248200	Weak transcription	Brain Germinal Matrix	brain
4	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
5	chr1:226230000-226249200	Weak transcription	Aorta	Aorta
6	chr1:226231200-226249200	Weak transcription	Pancreas	Pancrea
7	chr1:226232000-226249200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:226232200-226249400	Weak transcription	Gastric	stomach
9	chr1:226232600-226248600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:226234600-226248000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:226234600-226248800	Weak transcription	HSMM	muscle
12	chr1:226234800-226248800	Weak transcription	HSMMtube	muscle
13	chr1:226235000-226248200	Weak transcription	Fetal Intestine Large	intestine
14	chr1:226235000-226248800	Weak transcription	Colonic Mucosa	Colon
15	chr1:226235200-226248600	Weak transcription	HepG2	liver
16	chr1:226235200-226249200	Weak transcription	Small Intestine	intestine
17	chr1:226235400-226248000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:226235400-226248600	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:226235400-226249200	Weak transcription	Esophagus	oesophagus
20	chr1:226235600-226248200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:226235800-226248200	Weak transcription	Stomach Mucosa	stomach
22	chr1:226236200-226248200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:226236200-226248600	Weak transcription	Fetal Brain Male	brain
24	chr1:226236800-226248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:226236800-226248600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:226237200-226248600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:226237600-226248800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:226238400-226248200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:226238600-226249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:226240000-226248400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:226240800-226247800	Weak transcription	Psoas Muscle	Psoas
32	chr1:226241000-226249200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:226241200-226248200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:226242400-226248200	Weak transcription	Fetal Heart	heart
35	chr1:226242400-226248400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:226242400-226249200	Weak transcription	Lung	lung
37	chr1:226242600-226248600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:226242600-226248600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:226242600-226248800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:226242800-226248200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:226242800-226248200	Weak transcription	Fetal Brain Female	brain
42	chr1:226242800-226248400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:226242800-226248600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:226242800-226248600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:226242800-226248800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:226242800-226248800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:226242800-226248800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:226242800-226249000	Weak transcription	Ovary	ovary
49	chr1:226242800-226249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:226243000-226248600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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