Variant report

Variant	rs4750644
Chromosome Location	chr10:5735380-5735381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5733731..5736743-chr10:5750015..5755601,4	MCF-7	breast:
2	chr10:5487726..5489985-chr10:5734513..5736734,2	K562	blood:
3	chr10:5726775..5729176-chr10:5734287..5736106,2	MCF-7	breast:
4	chr10:5734758..5736346-chr10:5739333..5741720,2	MCF-7	breast:
5	chr10:5724274..5728540-chr10:5734829..5741563,8	MCF-7	breast:
6	chr10:5734808..5736462-chr10:5936256..5938867,2	K562	blood:
7	chr10:5702075..5704019-chr10:5735223..5736822,2	MCF-7	breast:
8	chr10:5706961..5708705-chr10:5733482..5736246,2	K562	blood:
9	chr10:5487726..5489985-chr10:5734513..5736734,3	K562	blood:
10	chr10:5733787..5736575-chr10:5751182..5753712,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173848	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000108021	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10752093	1.00[AFR][1000 genomes]
rs10752099	1.00[AMR][1000 genomes]
rs2669136	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs73612464	1.00[AMR][1000 genomes]
rs73614606	1.00[AMR][1000 genomes]
rs74116328	1.00[AMR][1000 genomes]
rs7900687	1.00[AMR][1000 genomes]

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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5728800-5746800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr10:5733600-5735400	Flanking Active TSS	NHEK	skin
3	chr10:5733800-5735400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr10:5733800-5735400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr10:5733800-5735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:5734000-5735400	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr10:5734000-5735400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:5734000-5735400	Active TSS	HepG2	liver
9	chr10:5734000-5735400	Flanking Active TSS	HMEC	breast
10	chr10:5734200-5735400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:5734200-5735400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr10:5734200-5735400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr10:5734200-5735400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr10:5734200-5735400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:5734200-5735400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr10:5734200-5735400	Active TSS	Brain Anterior Caudate	brain
17	chr10:5734200-5735400	Active TSS	NHDF-Ad	bronchial
18	chr10:5734400-5735400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:5734400-5735400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:5734400-5735400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr10:5734400-5735400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr10:5734400-5735600	Flanking Active TSS	Liver	Liver
23	chr10:5734600-5735400	Active TSS	Fetal Intestine Small	intestine
24	chr10:5734600-5735600	Active TSS	Stomach Mucosa	stomach
25	chr10:5734800-5735400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:5734800-5763400	Weak transcription	HSMM	muscle
27	chr10:5735000-5735400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr10:5735000-5735400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr10:5735000-5735400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:5735000-5735400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:5735000-5735400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr10:5735000-5735400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr10:5735000-5735400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr10:5735000-5735400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr10:5735000-5735400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr10:5735000-5735400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:5735000-5735400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:5735000-5735400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr10:5735000-5735400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr10:5735000-5735400	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr10:5735000-5735400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr10:5735000-5735400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr10:5735000-5735400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr10:5735000-5735400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr10:5735000-5735400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr10:5735000-5735400	Enhancers	Spleen	Spleen
47	chr10:5735000-5735400	Flanking Active TSS	A549	lung
48	chr10:5735000-5735600	Flanking Active TSS	K562	blood
49	chr10:5735000-5736400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr10:5735000-5736800	Enhancers	Small Intestine	intestine

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