Variant report

Variant	rs4714048
Chromosome Location	chr6:37191086-37191087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:37189190-37191099	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37189826..37192743-chr6:37195283..37198466,4	K562	blood:
2	chr6:37188645..37192022-chr6:37224032..37228554,5	K562	blood:
3	chr6:37189035..37191912-chr6:37193336..37196245,2	MCF-7	breast:
4	chr6:37190337..37192037-chr6:37231532..37234101,2	K562	blood:
5	chr6:37188645..37195045-chr6:37223083..37227292,6	K562	blood:

No data

Variant related genes	Relation type
TMEM217	TF binding region
ENSG00000172738	Chromatin interaction
ENSG00000065491	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1055460	1.00[JPT][hapmap]
rs1055461	1.00[JPT][hapmap]
rs12205385	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs262950	0.81[EUR][1000 genomes]
rs55761393	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7759976	0.86[EUR][1000 genomes]
rs9462284	1.00[JPT][hapmap]
rs9470535	1.00[JPT][hapmap]
rs9470540	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37189600-37191200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:37189600-37191200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr6:37189800-37191200	Active TSS	A549	lung
4	chr6:37190000-37191200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:37190200-37191200	Flanking Active TSS	Dnd41	blood
6	chr6:37190400-37191200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:37190400-37191200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:37190400-37191200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:37190600-37191200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:37190600-37191200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:37190600-37191200	Enhancers	Stomach Mucosa	stomach
12	chr6:37190600-37192800	Weak transcription	Pancreas	Pancrea
13	chr6:37190800-37191200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:37190800-37191200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:37190800-37191200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:37190800-37191400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:37191000-37191200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:37191000-37191200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:37191000-37191200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:37191000-37191200	Enhancers	Primary T cells from cord blood	blood
21	chr6:37191000-37191200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:37191000-37191200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:37191000-37191200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:37191000-37191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:37191000-37191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:37191000-37191200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:37191000-37191200	Enhancers	Brain Germinal Matrix	brain
28	chr6:37191000-37191200	Enhancers	Brain Hippocampus Middle	brain
29	chr6:37191000-37191200	Enhancers	Fetal Heart	heart
30	chr6:37191000-37191200	Enhancers	Fetal Kidney	kidney
31	chr6:37191000-37191200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:37191000-37191200	Enhancers	Hela-S3	cervix
33	chr6:37191000-37191200	Enhancers	HMEC	breast
34	chr6:37191000-37191200	Enhancers	HUVEC	blood vessel
35	chr6:37191000-37191200	Enhancers	K562	blood
36	chr6:37191000-37191200	Enhancers	NHDF-Ad	bronchial
37	chr6:37191000-37191200	Enhancers	NHEK	skin
38	chr6:37191000-37191200	Enhancers	Osteobl	bone
39	chr6:37191000-37191400	Enhancers	HepG2	liver
40	chr6:37191000-37193600	Weak transcription	Right Atrium	heart

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