Variant report

Variant	rs10171359
Chromosome Location	chr2:112873890-112873891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172310	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175344	1.00[ASN][1000 genomes]
rs10175752	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10182451	1.00[ASN][1000 genomes]
rs10182764	1.00[ASN][1000 genomes]
rs10182931	1.00[ASN][1000 genomes]
rs10183003	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10197735	1.00[ASN][1000 genomes]
rs10201041	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204243	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204653	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204929	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10206255	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	1.00[ASN][1000 genomes]
rs13383743	1.00[ASN][1000 genomes]
rs13391959	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394094	1.00[ASN][1000 genomes]
rs13401258	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411851	1.00[ASN][1000 genomes]
rs13412743	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421261	1.00[ASN][1000 genomes]
rs13422534	1.00[ASN][1000 genomes]
rs13424713	1.00[ASN][1000 genomes]
rs13431260	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56371451	1.00[ASN][1000 genomes]
rs6705046	1.00[ASN][1000 genomes]
rs67246870	1.00[ASN][1000 genomes]
rs72825696	1.00[ASN][1000 genomes]
rs72829620	1.00[ASN][1000 genomes]
rs72829658	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829697	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72831604	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72943913	1.00[ASN][1000 genomes]
rs9631022	1.00[ASN][1000 genomes]
rs9631023	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh 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	19 gene(s)	inside rSNPs	diseases
7	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1800280	chr2:112870757-112874176	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1801525	chr2:112870840-112874062	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112822800-112876800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:112836000-112874400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:112845400-112875200	Weak transcription	Right Ventricle	heart
5	chr2:112851200-112881600	Weak transcription	Stomach Mucosa	stomach
6	chr2:112856800-112874200	Weak transcription	Lung	lung
7	chr2:112856800-112875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:112856800-112881800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:112857000-112883000	Weak transcription	Hela-S3	cervix
10	chr2:112857000-112891200	Weak transcription	Small Intestine	intestine
11	chr2:112857200-112877600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:112859600-112877200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:112866200-112879000	Weak transcription	Psoas Muscle	Psoas
14	chr2:112867200-112874400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:112867200-112877200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:112867200-112880400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:112867600-112882600	Weak transcription	Fetal Stomach	stomach
18	chr2:112867800-112874400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:112867800-112879800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:112867800-112881400	Weak transcription	Fetal Intestine Small	intestine
21	chr2:112868600-112877200	Weak transcription	Fetal Brain Female	brain
22	chr2:112868800-112875400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:112869800-112884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:112869800-112890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:112870000-112875200	Weak transcription	Dnd41	blood
26	chr2:112870000-112877000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:112870000-112880200	Weak transcription	Fetal Heart	heart
28	chr2:112870000-112881800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:112870200-112877400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:112870400-112874200	Weak transcription	Aorta	Aorta
31	chr2:112870400-112875200	Weak transcription	K562	blood
32	chr2:112870400-112876000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:112870400-112876000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:112870400-112880000	Weak transcription	HSMMtube	muscle
35	chr2:112870400-112880200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:112870400-112880200	Weak transcription	Fetal Kidney	kidney
37	chr2:112870400-112880200	Weak transcription	Pancreas	Pancrea
38	chr2:112870400-112880200	Weak transcription	Thymus	Thymus
39	chr2:112870400-112895000	Weak transcription	HMEC	breast
40	chr2:112870400-112895200	Weak transcription	Gastric	stomach
41	chr2:112870600-112874200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:112870600-112874200	Weak transcription	Left Ventricle	heart
43	chr2:112870600-112875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:112870600-112875200	Weak transcription	Brain Anterior Caudate	brain
45	chr2:112870600-112875400	Weak transcription	Spleen	Spleen
46	chr2:112870600-112879600	Weak transcription	Fetal Lung	lung
47	chr2:112870600-112882000	Weak transcription	Esophagus	oesophagus
48	chr2:112870600-112882200	Weak transcription	NHEK	skin
49	chr2:112870600-112882800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:112870800-112874200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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