Variant report

Variant	rs13141708
Chromosome Location	chr4:110649768-110649769
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110648642..110653205-chr4:110733223..110738599,11	K562	blood:
2	chr4:110361667..110363335-chr4:110648741..110650588,2	K562	blood:
3	chr4:110623047..110625582-chr4:110648264..110650027,2	K562	blood:
4	chr4:110636503..110639400-chr4:110648800..110651046,2	MCF-7	breast:
5	chr4:110622125..110626663-chr4:110647059..110653148,13	MCF-7	breast:
6	chr4:110629385..110631488-chr4:110647132..110649951,2	K562	blood:
7	chr4:110613405..110615968-chr4:110648212..110650472,2	K562	blood:
8	chr4:110648895..110652104-chr4:110733858..110738186,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109534	Chromatin interaction
ENSG00000272795	Chromatin interaction
ENSG00000138794	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10016907	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136260	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144085	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800613	1.00[ASN][1000 genomes]
rs2346841	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28462209	1.00[ASN][1000 genomes]
rs3181344	1.00[ASN][1000 genomes]
rs3181345	1.00[ASN][1000 genomes]
rs34682042	1.00[ASN][1000 genomes]
rs5030516	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5030547	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5030552	1.00[ASN][1000 genomes]
rs72674848	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv595142	chr4:110609481-110656730	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv4463	chr4:110647731-110693125	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110625000-110650400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:110625000-110650400	Weak transcription	Spleen	Spleen
3	chr4:110625200-110650200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:110625200-110650200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:110635000-110650400	Weak transcription	Gastric	stomach
6	chr4:110635400-110650000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:110635800-110649800	Weak transcription	Psoas Muscle	Psoas
8	chr4:110635800-110650000	Weak transcription	Right Ventricle	heart
9	chr4:110635800-110650400	Weak transcription	Lung	lung
10	chr4:110638200-110649800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:110638200-110650000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:110638200-110650200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:110638400-110650000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:110638600-110650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:110638600-110650400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:110638800-110649800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:110638800-110650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:110639000-110649800	Weak transcription	Left Ventricle	heart
19	chr4:110639000-110650400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:110643800-110649800	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:110644200-110650000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:110644200-110650000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:110644800-110649800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:110648600-110650200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:110648800-110650000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr4:110648800-110650000	Enhancers	HSMM	muscle
27	chr4:110648800-110652000	Active TSS	K562	blood
28	chr4:110649000-110649800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr4:110649000-110649800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:110649000-110649800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:110649000-110649800	Enhancers	Brain Germinal Matrix	brain
32	chr4:110649000-110649800	Flanking Active TSS	HMEC	breast
33	chr4:110649000-110650000	Enhancers	A549	lung
34	chr4:110649000-110650000	Flanking Active TSS	HSMMtube	muscle
35	chr4:110649000-110650200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:110649000-110650200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:110649000-110651800	Active TSS	Fetal Intestine Large	intestine
38	chr4:110649000-110652000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr4:110649000-110652000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:110649000-110652200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr4:110649000-110652200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr4:110649000-110652200	Active TSS	Fetal Intestine Small	intestine
43	chr4:110649200-110649800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:110649200-110649800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr4:110649200-110649800	Enhancers	NH-A	brain
46	chr4:110649200-110649800	Enhancers	Osteobl	bone
47	chr4:110649200-110650000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr4:110649200-110650000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:110649200-110650000	Enhancers	Fetal Brain Male	brain
50	chr4:110649200-110650600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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