Variant report

Variant	rs6717307
Chromosome Location	chr2:10169540-10169541
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	chr2:10134013..10138352-chr2:10168771..10170817,3	K562	blood:
2	chr2:10158527..10161012-chr2:10168048..10171028,3	K562	blood:
3	chr2:10090078..10091613-chr2:10169348..10171878,2	K562	blood:
4	chr2:10168694..10173635-chr2:10261158..10263596,5	K562	blood:
5	chr2:10168238..10170580-chr2:10257778..10260756,2	K562	blood:
6	chr2:10169446..10172222-chr2:10261892..10264280,4	K562	blood:
7	chr2:10169082..10172266-chr2:10172461..10174978,3	MCF-7	breast:
8	chr2:10169355..10171398-chr2:10585390..10587810,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000206633	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12468621	1.00[ASN][1000 genomes]
rs2116017	1.00[ASN][1000 genomes]
rs35927125	1.00[ASN][1000 genomes]
rs4444493	1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs55797250	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56013048	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56147664	1.00[ASN][1000 genomes]
rs57031421	1.00[ASN][1000 genomes]
rs6716517	1.00[ASN][1000 genomes]
rs6744630	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72784502	1.00[ASN][1000 genomes]
rs72786603	1.00[ASN][1000 genomes]
rs7591484	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10160400-10175000	Weak transcription	Liver	Liver
2	chr2:10167600-10169600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr2:10167600-10170600	Enhancers	Right Atrium	heart
4	chr2:10167600-10171200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:10167800-10170800	Enhancers	Right Ventricle	heart
6	chr2:10168000-10170000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:10168000-10170400	Enhancers	Stomach Smooth Muscle	stomach
8	chr2:10168000-10170600	Enhancers	Spleen	Spleen
9	chr2:10168200-10170800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:10168200-10170800	Enhancers	Placenta	Placenta
11	chr2:10168200-10171400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:10168400-10169800	Enhancers	Colon Smooth Muscle	Colon
13	chr2:10168400-10170600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:10168400-10170600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:10168400-10170600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:10168400-10170800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:10168400-10170800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:10168400-10171000	Enhancers	Lung	lung
19	chr2:10168600-10170000	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr2:10168600-10170400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:10168600-10170400	Enhancers	Fetal Intestine Large	intestine
22	chr2:10168600-10170600	Enhancers	Left Ventricle	heart
23	chr2:10168600-10171000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:10168600-10171600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:10168600-10173000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:10168800-10169600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:10168800-10169800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:10168800-10169800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:10168800-10169800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:10168800-10169800	Enhancers	Brain Anterior Caudate	brain
31	chr2:10168800-10170200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:10168800-10170200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:10168800-10170400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:10168800-10170400	Enhancers	Fetal Lung	lung
35	chr2:10168800-10170600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:10168800-10170600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:10168800-10170600	Enhancers	Fetal Thymus	thymus
38	chr2:10168800-10170800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:10168800-10170800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:10168800-10170800	Enhancers	Esophagus	oesophagus
41	chr2:10168800-10170800	Enhancers	Fetal Stomach	stomach
42	chr2:10168800-10170800	Enhancers	NHEK	skin
43	chr2:10168800-10171000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:10168800-10171000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr2:10168800-10171800	Flanking Active TSS	K562	blood
46	chr2:10169000-10169800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr2:10169000-10169800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:10169000-10169800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:10169000-10170200	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:10169000-10170200	Enhancers	GM12878-XiMat	blood

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