Variant report

Variant	rs114294414
Chromosome Location	chr10:5734021-5734022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr10:5733831-5735242	HEK293	kidney:	n/a	n/a
2	POLR2A	chr10:5733717-5735393	Raji	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5733731..5736743-chr10:5750015..5755601,4	MCF-7	breast:
2	chr10:5706961..5708705-chr10:5733482..5736246,2	K562	blood:
3	chr10:5722939..5725566-chr10:5730999..5734048,3	K562	blood:
4	chr10:5732056..5734929-chr10:5855542..5857938,2	K562	blood:
5	chr10:5732626..5734143-chr10:5754788..5756828,2	K562	blood:
6	chr10:5731846..5734735-chr10:5789579..5792999,3	K562	blood:
7	chr10:5733787..5736575-chr10:5751182..5753712,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM208B	TF binding region
ENSG00000196372	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000226647	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	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv8600	chr10:5733691-5736727	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5728000-5734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:5728200-5734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:5728200-5734400	Weak transcription	Aorta	Aorta
4	chr10:5728400-5734400	Weak transcription	HSMM	muscle
5	chr10:5728600-5734200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr10:5728600-5734200	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:5728600-5734200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:5728600-5734200	Weak transcription	Right Ventricle	heart
9	chr10:5728600-5734200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:5728600-5734200	Weak transcription	Thymus	Thymus
11	chr10:5728800-5734200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:5728800-5734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:5728800-5734200	Weak transcription	Fetal Kidney	kidney
14	chr10:5728800-5734200	Weak transcription	NHLF	lung
15	chr10:5728800-5746800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr10:5729400-5734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:5730400-5734200	Weak transcription	Ovary	ovary
18	chr10:5731200-5734400	Weak transcription	Dnd41	blood
19	chr10:5732000-5734400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr10:5732200-5734200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr10:5732200-5734400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:5732400-5734200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr10:5733000-5734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:5733400-5734200	Enhancers	Primary B cells from cord blood	blood
25	chr10:5733400-5734200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr10:5733400-5734200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:5733400-5734200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr10:5733600-5734200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:5733600-5734200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:5733600-5734200	Enhancers	Primary hematopoietic stem cells	blood
31	chr10:5733600-5734200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:5733600-5734200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:5733600-5734200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:5733600-5734200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:5733600-5734200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr10:5733600-5734200	Enhancers	Fetal Heart	heart
37	chr10:5733600-5734200	Enhancers	NH-A	brain
38	chr10:5733600-5734200	Enhancers	NHDF-Ad	bronchial
39	chr10:5733600-5734400	Enhancers	Primary B cells from peripheral blood	blood
40	chr10:5733600-5734400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:5733600-5734400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr10:5733600-5734400	Enhancers	Liver	Liver
43	chr10:5733600-5734400	Enhancers	Colon Smooth Muscle	Colon
44	chr10:5733600-5734400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr10:5733600-5734600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr10:5733600-5735400	Flanking Active TSS	NHEK	skin
47	chr10:5733800-5734200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:5733800-5734200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:5733800-5734200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr10:5733800-5734200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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