Variant report

Variant	rs541994485
Chromosome Location	chr1:227147202-227147203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227146674..227148732-chr1:227169923..227172116,2	K562	blood:
2	chr1:227134108..227135698-chr1:227147086..227148857,2	K562	blood:

Variant related genes	Relation type
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv873236	chr1:227118912-227173537	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv549268	chr1:227124660-227149203	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
7	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv3425052	chr1:227145829-227150327	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3450926	chr1:227146429-227149527	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227129000-227162600	Weak transcription	Fetal Kidney	kidney
2	chr1:227130400-227154600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:227131400-227153800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:227133200-227149800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:227134400-227151800	Weak transcription	Small Intestine	intestine
7	chr1:227134400-227153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:227134600-227150200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:227134800-227149000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:227134800-227150200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:227135000-227150600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:227135200-227149800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:227135200-227152600	Weak transcription	Colonic Mucosa	Colon
14	chr1:227135200-227158000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:227136200-227152800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:227136400-227149200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:227137400-227150400	Weak transcription	Aorta	Aorta
18	chr1:227138000-227149000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:227138000-227152000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:227138400-227147800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:227139200-227151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:227139400-227149800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:227139400-227150600	Weak transcription	Primary B cells from cord blood	blood
24	chr1:227140000-227150200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:227140000-227152200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:227140000-227152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:227140000-227153000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:227141400-227149600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:227142200-227157800	Weak transcription	Fetal Lung	lung
30	chr1:227142400-227149200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:227142800-227148600	Weak transcription	Ovary	ovary
32	chr1:227142800-227149400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:227142800-227152200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:227143000-227147400	Weak transcription	Lung	lung
35	chr1:227143000-227148000	Weak transcription	HepG2	liver
36	chr1:227143000-227149400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:227143000-227153800	Weak transcription	Hela-S3	cervix
38	chr1:227143400-227150000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:227143400-227161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:227144000-227148400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:227144600-227148800	Enhancers	Pancreas	Pancrea
42	chr1:227144800-227149600	Enhancers	Psoas Muscle	Psoas
43	chr1:227145400-227159600	Weak transcription	Brain Substantia Nigra	brain
44	chr1:227145600-227150000	Weak transcription	Adipose Nuclei	Adipose
45	chr1:227145800-227151600	Weak transcription	Brain Anterior Caudate	brain
46	chr1:227146000-227147600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:227146000-227147800	Enhancers	Right Ventricle	heart
48	chr1:227146000-227148000	Enhancers	Spleen	Spleen
49	chr1:227146000-227148400	Enhancers	Esophagus	oesophagus
50	chr1:227146000-227148600	Enhancers	Gastric	stomach

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