Variant report

Variant	rs17161284
Chromosome Location	chr5:107702362-107702363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107699675..107702509-chr5:107715943..107717724,2	K562	blood:
2	chr5:107700578..107705838-chr5:107715421..107718628,5	K562	blood:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10515386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12163950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12652018	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12654121	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12654703	0.83[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656256	0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656744	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12656817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12657054	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12658221	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12659121	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12659135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1422148	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17161254	0.96[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161304	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161316	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs1965392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2063422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2122159	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2416526	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2910790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2966787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2966791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4423983	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4463170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4593253	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4957754	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55875758	0.89[EUR][1000 genomes]
rs57067664	0.89[EUR][1000 genomes]
rs60493671	0.89[EUR][1000 genomes]
rs72503488	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781360	0.89[EUR][1000 genomes]
rs73781369	0.89[EUR][1000 genomes]
rs7720469	0.84[CHB][hapmap]

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	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882688	chr5:107595383-107715746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
2	chr5:107648000-107704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:107654600-107709400	Weak transcription	Pancreas	Pancrea
4	chr5:107658600-107709200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:107663800-107709400	Weak transcription	Primary T cells from cord blood	blood
6	chr5:107667600-107709200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:107668600-107706800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:107669200-107708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:107670000-107702400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:107675000-107709200	Weak transcription	Fetal Thymus	thymus
11	chr5:107676800-107702400	Weak transcription	Fetal Kidney	kidney
12	chr5:107677800-107709200	Weak transcription	Ovary	ovary
13	chr5:107679200-107706800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:107679800-107705600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:107680000-107706800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:107680400-107707600	Weak transcription	Fetal Intestine Large	intestine
17	chr5:107682000-107703600	Weak transcription	Dnd41	blood
18	chr5:107683000-107703600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:107684400-107702600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:107688000-107702600	Weak transcription	Liver	Liver
21	chr5:107688000-107707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:107692000-107702400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:107692400-107702400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:107693000-107704600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:107693000-107706800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:107693600-107706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:107694400-107703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:107694400-107706800	Weak transcription	GM12878-XiMat	blood
29	chr5:107695000-107702800	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:107696600-107709200	Weak transcription	Fetal Lung	lung
31	chr5:107697000-107705000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:107697200-107715200	Weak transcription	HSMM	muscle
33	chr5:107697400-107703200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:107697600-107705200	Weak transcription	Brain Substantia Nigra	brain
35	chr5:107697600-107706000	Weak transcription	Stomach Mucosa	stomach
36	chr5:107697600-107708000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:107697800-107702400	Weak transcription	HSMMtube	muscle
38	chr5:107697800-107703200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:107697800-107707600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:107697800-107709200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:107698000-107702400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:107698000-107707800	Weak transcription	Brain Anterior Caudate	brain
43	chr5:107698200-107715600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:107698800-107703600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:107699000-107712800	Weak transcription	Right Ventricle	heart
46	chr5:107699400-107702600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr5:107699600-107703000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:107699600-107709200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:107699800-107703000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:107699800-107704200	Strong transcription	Primary B cells from cord blood	blood

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