Variant report

Variant	rs74140233
Chromosome Location	chr1:227206540-227206541
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227203735..227207189-chr1:227216806..227218910,3	K562	blood:
2	chr1:227204938..227208966-chr1:227211408..227214932,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11807094	0.85[AMR][1000 genomes]
rs11808962	0.85[AMR][1000 genomes]
rs16847249	0.85[AMR][1000 genomes]
rs1888830	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56352806	0.85[AMR][1000 genomes]
rs57454791	0.85[AMR][1000 genomes]
rs57752854	0.85[AMR][1000 genomes]
rs59136460	0.85[AMR][1000 genomes]
rs60483746	0.85[AMR][1000 genomes]
rs73089746	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73091757	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73091766	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73092520	0.85[AMR][1000 genomes]
rs73092602	0.85[AMR][1000 genomes]
rs73093467	0.85[AFR][1000 genomes]
rs73094331	0.85[AMR][1000 genomes]
rs73094355	0.85[AMR][1000 genomes]
rs73096883	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73100813	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73102918	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74140278	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74140289	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1005811	chr1:227196502-227215967	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1007352	chr1:227196502-227247160	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997751	chr1:227196502-227263537	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1010864	chr1:227199493-227246753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1014423	chr1:227201253-227268843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227175200-227210200	Weak transcription	HMEC	breast
3	chr1:227175600-227216200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:227176000-227216400	Weak transcription	NHLF	lung
5	chr1:227177400-227255200	Weak transcription	Small Intestine	intestine
6	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
7	chr1:227178600-227206600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:227178600-227226200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:227179400-227215000	Weak transcription	Placenta	Placenta
10	chr1:227179600-227213800	Weak transcription	NH-A	brain
11	chr1:227182000-227216000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:227182800-227224200	Weak transcription	Spleen	Spleen
13	chr1:227183200-227228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:227183200-227240400	Weak transcription	Colonic Mucosa	Colon
15	chr1:227184000-227214600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:227184000-227234000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:227184200-227206600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:227184600-227208000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:227187200-227218600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:227189200-227207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:227190600-227206600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:227190600-227217000	Weak transcription	Esophagus	oesophagus
23	chr1:227190600-227223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:227190600-227272600	Weak transcription	Lung	lung
25	chr1:227191200-227208200	Weak transcription	NHEK	skin
26	chr1:227191200-227214400	Weak transcription	Aorta	Aorta
27	chr1:227191600-227206600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:227192200-227207000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:227192400-227206600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:227192600-227220200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:227192800-227206600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:227192800-227206800	Weak transcription	Fetal Heart	heart
33	chr1:227192800-227206800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:227192800-227207200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:227192800-227208000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:227192800-227214200	Weak transcription	Right Ventricle	heart
37	chr1:227192800-227220200	Weak transcription	Gastric	stomach
38	chr1:227193000-227208000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:227194400-227208000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:227197600-227207200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:227198400-227207200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:227198800-227206600	Weak transcription	A549	lung
43	chr1:227198800-227207600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:227198800-227207800	Weak transcription	Ovary	ovary
45	chr1:227199000-227206600	Weak transcription	K562	blood
46	chr1:227201400-227210800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:227202000-227207200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:227202200-227209200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:227202400-227208600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:227202400-227209000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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