Variant report

Variant	rs10170258
Chromosome Location	chr2:112878138-112878139
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112876153..112878699-chr2:113239813..113241981,2	K562	blood:
2	chr2:112858608..112860741-chr2:112877873..112879407,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10168915	1.00[ASN][1000 genomes]
rs10171359	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172310	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175344	1.00[ASN][1000 genomes]
rs10175752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10197735	1.00[ASN][1000 genomes]
rs10201041	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10204243	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204929	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206255	1.00[YRI][hapmap];0.88[AFR][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[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394094	1.00[ASN][1000 genomes]
rs13401258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411851	1.00[ASN][1000 genomes]
rs13412743	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[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[YRI][hapmap];0.88[AFR][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	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72829697	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72831604	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:7 , 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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:112851200-112881600	Weak transcription	Stomach Mucosa	stomach
3	chr2:112856800-112881800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:112857000-112883000	Weak transcription	Hela-S3	cervix
5	chr2:112857000-112891200	Weak transcription	Small Intestine	intestine
6	chr2:112866200-112879000	Weak transcription	Psoas Muscle	Psoas
7	chr2:112867200-112880400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:112867600-112882600	Weak transcription	Fetal Stomach	stomach
9	chr2:112867800-112879800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:112867800-112881400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:112869800-112884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:112869800-112890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:112870000-112880200	Weak transcription	Fetal Heart	heart
14	chr2:112870000-112881800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:112870400-112880000	Weak transcription	HSMMtube	muscle
16	chr2:112870400-112880200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:112870400-112880200	Weak transcription	Fetal Kidney	kidney
18	chr2:112870400-112880200	Weak transcription	Pancreas	Pancrea
19	chr2:112870400-112880200	Weak transcription	Thymus	Thymus
20	chr2:112870400-112895000	Weak transcription	HMEC	breast
21	chr2:112870400-112895200	Weak transcription	Gastric	stomach
22	chr2:112870600-112879600	Weak transcription	Fetal Lung	lung
23	chr2:112870600-112882000	Weak transcription	Esophagus	oesophagus
24	chr2:112870600-112882200	Weak transcription	NHEK	skin
25	chr2:112870600-112882800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:112871000-112879600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:112871000-112879600	Weak transcription	A549	lung
28	chr2:112871200-112879600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:112871200-112879600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:112871200-112880200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:112871200-112881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:112871200-112881800	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:112871200-112882600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:112871200-112883200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:112874400-112882000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:112874600-112882800	Weak transcription	Lung	lung
37	chr2:112875200-112879800	Weak transcription	NH-A	brain
38	chr2:112875400-112879600	Weak transcription	HSMM	muscle
39	chr2:112875400-112879800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:112875600-112879800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:112875600-112891400	Weak transcription	HepG2	liver
42	chr2:112875800-112879800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:112875800-112880000	Weak transcription	Placenta	Placenta
44	chr2:112875800-112881800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:112875800-112882000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:112876000-112878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:112876000-112879400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:112876000-112879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:112876000-112879600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:112876000-112879600	Weak transcription	Primary B cells from cord blood	blood

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