Variant report

Variant	rs1317205
Chromosome Location	chr1:224638783-224638784
allele	G/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	chr1:224627143..224628933-chr1:224633589..224638837,4	MCF-7	breast:
2	chr1:224637202..224641034-chr1:224641889..224644811,3	K562	blood:
3	chr1:224633115..224636329-chr1:224637747..224639820,3	K562	blood:
4	chr1:224636445..224639746-chr1:224642433..224645284,3	K562	blood:
5	chr1:224634502..224636379-chr1:224636698..224640995,4	K562	blood:
6	chr1:224615678..224629188-chr1:224635437..224647951,56	MCF-7	breast:
7	chr1:224623991..224626334-chr1:224637841..224639342,2	K562	blood:
8	chr1:224620202..224624138-chr1:224637608..224640207,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10495218	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800357	0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804538	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809688	0.81[YRI][hapmap]
rs11810160	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs11812007	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs16847784	0.86[YRI][hapmap]
rs16847870	0.81[YRI][hapmap]
rs16847871	0.86[YRI][hapmap]
rs16848356	0.81[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16848382	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2211327	0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58243680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59804672	0.92[AMR][1000 genomes]
rs61590597	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687735	0.92[AMR][1000 genomes]
rs73125529	0.85[AMR][1000 genomes]
rs73125533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125540	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224623200-224644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:224623400-224641000	Weak transcription	Fetal Intestine Large	intestine
3	chr1:224623400-224643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:224623400-224644600	Weak transcription	Right Ventricle	heart
5	chr1:224623600-224642200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:224623600-224644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:224623600-224644600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:224623800-224644400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:224624000-224642200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:224624000-224644000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:224624000-224644600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:224624000-224644600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:224624000-224645000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:224624000-224645000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:224624000-224645000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:224624000-224646800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:224624200-224642200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:224624800-224641400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:224624800-224644000	Weak transcription	Pancreas	Pancrea
20	chr1:224624800-224644400	Weak transcription	A549	lung
21	chr1:224624800-224645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:224625200-224644600	Weak transcription	GM12878-XiMat	blood
23	chr1:224625200-224645000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:224627000-224644000	Weak transcription	Placenta	Placenta
25	chr1:224627200-224641000	Weak transcription	HepG2	liver
26	chr1:224627200-224642000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:224627200-224644400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:224628200-224645000	Weak transcription	Thymus	Thymus
29	chr1:224628400-224641400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:224628400-224644600	Weak transcription	Fetal Lung	lung
31	chr1:224628400-224644800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:224628400-224648800	Weak transcription	Fetal Brain Female	brain
33	chr1:224628600-224644200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:224628600-224653600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:224628800-224643800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:224629200-224644200	Weak transcription	Brain Germinal Matrix	brain
37	chr1:224629200-224644600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:224630600-224641600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:224630600-224641600	Weak transcription	K562	blood
40	chr1:224630800-224643000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:224630800-224644600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:224631000-224644200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:224631200-224638800	Weak transcription	Primary T cells from cord blood	blood
44	chr1:224631200-224644400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:224631600-224641400	Weak transcription	Primary B cells from cord blood	blood
46	chr1:224635200-224643800	Weak transcription	Lung	lung
47	chr1:224635200-224644000	Weak transcription	Ovary	ovary
48	chr1:224635200-224644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:224635200-224644400	Weak transcription	Left Ventricle	heart
50	chr1:224635200-224644600	Weak transcription	Aorta	Aorta

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