Variant report

Variant	rs34709111
Chromosome Location	chr1:223300496-223300497
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	chr1:223299760..223302095-chr1:223310468..223313608,3	K562	blood:
2	chr1:222816004..222818056-chr1:223300181..223302389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3384857	chr1:223300344-223300888	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223276800-223302200	Weak transcription	Esophagus	oesophagus
2	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223282400-223302800	Weak transcription	Thymus	Thymus
4	chr1:223283400-223302600	Weak transcription	Gastric	stomach
5	chr1:223289400-223302400	Weak transcription	Spleen	Spleen
6	chr1:223290800-223302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:223293200-223302400	Weak transcription	Placenta	Placenta
8	chr1:223294200-223302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:223297000-223302800	Weak transcription	NH-A	brain
10	chr1:223297200-223300800	Weak transcription	Ovary	ovary
11	chr1:223297200-223301600	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:223297200-223301600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:223297200-223302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:223297200-223302400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:223297200-223302400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:223297200-223302400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:223297200-223302400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:223297200-223302400	Weak transcription	Adipose Nuclei	Adipose
19	chr1:223297200-223302400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:223297200-223302400	Weak transcription	Lung	lung
21	chr1:223297200-223302400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:223297200-223302400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:223297200-223302600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:223297200-223302600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:223297200-223302600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:223297200-223302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:223297200-223302600	Weak transcription	Liver	Liver
28	chr1:223297200-223302600	Weak transcription	Colonic Mucosa	Colon
29	chr1:223297200-223302600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:223297200-223302600	Weak transcription	Fetal Intestine Small	intestine
31	chr1:223297200-223302600	Weak transcription	Right Atrium	heart
32	chr1:223297200-223302600	Weak transcription	Stomach Mucosa	stomach
33	chr1:223297200-223302800	Weak transcription	Psoas Muscle	Psoas
34	chr1:223297200-223302800	Weak transcription	HSMM	muscle
35	chr1:223297200-223307000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:223297200-223307000	Weak transcription	Aorta	Aorta
37	chr1:223297400-223302600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:223297600-223306800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:223299400-223302400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:223299800-223302200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:223299800-223302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:223300000-223300600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:223300000-223302400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:223300200-223301000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:223300200-223301000	Enhancers	Brain Anterior Caudate	brain
46	chr1:223300200-223301400	Enhancers	Brain Germinal Matrix	brain
47	chr1:223300200-223302800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:223300400-223300800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:223300400-223301000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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