Variant report

Variant	rs544930183
Chromosome Location	chr1:213041905-213041906
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213032682..213037696-chr1:213038069..213043473,6	K562	blood:
2	chr1:213002092..213003822-chr1:213040039..213042148,2	K562	blood:
3	chr1:213031272..213038020-chr1:213040720..213048331,10	K562	blood:
4	chr1:213040300..213042691-chr1:213054339..213056368,2	K562	blood:
5	chr1:213030296..213033597-chr1:213041036..213045224,4	MCF-7	breast:
6	chr1:213001465..213003584-chr1:213040615..213043476,2	MCF-7	breast:
7	chr1:213039818..213042123-chr1:213045133..213047613,2	K562	blood:

Variant related genes	Relation type
ENSG00000198468	Chromatin interaction
ENSG00000162769	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv998261	chr1:213029814-213064209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv826575	chr1:213040889-213042359	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv826587	chr1:213040944-213042359	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213032600-213046400	Weak transcription	Ovary	ovary
2	chr1:213032600-213049200	Weak transcription	Right Atrium	heart
3	chr1:213032600-213073000	Weak transcription	Colonic Mucosa	Colon
4	chr1:213032600-213073000	Weak transcription	Esophagus	oesophagus
5	chr1:213032800-213046400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:213032800-213048000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:213032800-213056800	Weak transcription	Fetal Thymus	thymus
8	chr1:213032800-213057800	Weak transcription	Placenta	Placenta
9	chr1:213032800-213061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:213032800-213062000	Weak transcription	Psoas Muscle	Psoas
11	chr1:213033400-213046800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:213033400-213046800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:213033600-213046800	Weak transcription	Liver	Liver
14	chr1:213033600-213048600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:213033600-213062000	Weak transcription	Thymus	Thymus
16	chr1:213034400-213044800	Weak transcription	HSMMtube	muscle
17	chr1:213034400-213046200	Weak transcription	Fetal Lung	lung
18	chr1:213034400-213046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:213034400-213046600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:213034400-213048200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:213034400-213048400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:213034400-213058000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:213034400-213068000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:213034600-213044200	Weak transcription	Aorta	Aorta
25	chr1:213034600-213044800	Weak transcription	Left Ventricle	heart
26	chr1:213034600-213044800	Weak transcription	Pancreas	Pancrea
27	chr1:213034600-213046000	Weak transcription	HMEC	breast
28	chr1:213034600-213046400	Weak transcription	Brain Anterior Caudate	brain
29	chr1:213034600-213046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:213034600-213046600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:213034600-213046800	Weak transcription	Primary B cells from cord blood	blood
32	chr1:213034600-213046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:213034600-213046800	Weak transcription	NHDF-Ad	bronchial
34	chr1:213034600-213047400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:213034600-213048000	Weak transcription	Spleen	Spleen
36	chr1:213034600-213048600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:213034600-213048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:213034600-213049200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:213034600-213049200	Weak transcription	Lung	lung
40	chr1:213034600-213049400	Weak transcription	Gastric	stomach
41	chr1:213034600-213056200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:213034600-213057000	Weak transcription	Brain Substantia Nigra	brain
43	chr1:213034600-213057000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:213034600-213057200	Weak transcription	Right Ventricle	heart
45	chr1:213034600-213061800	Weak transcription	Fetal Heart	heart
46	chr1:213034600-213067800	Weak transcription	NHLF	lung
47	chr1:213034600-213070600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:213034800-213044800	Weak transcription	Fetal Brain Female	brain
49	chr1:213035800-213042800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:213035800-213046400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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