Variant report

Variant	rs10175344
Chromosome Location	chr2:112815485-112815486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
2	chr2:112643670..112645263-chr2:112814283..112816428,2	MCF-7	breast:
3	chr2:112813166..112815786-chr2:113032980..113035642,2	MCF-7	breast:
4	chr2:112815166..112819031-chr2:112819758..112824247,10	K562	blood:
5	chr2:112815378..112818291-chr2:112847520..112849051,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction
ENSG00000153208	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10165940	0.90[EUR][1000 genomes]
rs10168067	0.84[EUR][1000 genomes]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	1.00[ASN][1000 genomes]
rs10171359	1.00[ASN][1000 genomes]
rs10172310	1.00[ASN][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10180086	0.90[EUR][1000 genomes]
rs10182451	1.00[ASN][1000 genomes]
rs10182764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183003	1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10190471	0.90[EUR][1000 genomes]
rs10197735	1.00[ASN][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	1.00[ASN][1000 genomes]
rs10204243	1.00[ASN][1000 genomes]
rs10204653	1.00[ASN][1000 genomes]
rs10205793	0.90[EUR][1000 genomes]
rs10206255	1.00[ASN][1000 genomes]
rs10211152	0.84[EUR][1000 genomes]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383743	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387346	0.80[EUR][1000 genomes]
rs13391959	1.00[ASN][1000 genomes]
rs13394094	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396030	0.80[EUR][1000 genomes]
rs13401258	1.00[ASN][1000 genomes]
rs13402707	0.90[EUR][1000 genomes]
rs13411851	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412743	1.00[ASN][1000 genomes]
rs13416895	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[ASN][1000 genomes]
rs13421261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422534	1.00[ASN][1000 genomes]
rs13424713	1.00[ASN][1000 genomes]
rs13431260	1.00[ASN][1000 genomes]
rs2230517	0.90[EUR][1000 genomes]
rs56371451	1.00[ASN][1000 genomes]
rs6705046	1.00[ASN][1000 genomes]
rs6723289	0.90[EUR][1000 genomes]
rs6723394	0.90[EUR][1000 genomes]
rs67246870	1.00[ASN][1000 genomes]
rs6735717	0.90[EUR][1000 genomes]
rs72825696	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829620	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829658	1.00[ASN][1000 genomes]
rs72943913	1.00[ASN][1000 genomes]
rs9631022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9631023	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814000-112817400	Enhancers	Small Intestine	intestine
2	chr2:112814200-112816400	Weak transcription	Esophagus	oesophagus
3	chr2:112814200-112816600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:112814200-112817000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:112814200-112817000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:112814200-112817200	Enhancers	Stomach Mucosa	stomach
7	chr2:112814200-112821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:112814200-112827000	Weak transcription	Psoas Muscle	Psoas
9	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:112814400-112816200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:112814400-112816600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:112814400-112816600	Enhancers	Gastric	stomach
15	chr2:112814400-112816600	Enhancers	Ovary	ovary
16	chr2:112814400-112817400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:112814400-112820400	Weak transcription	Aorta	Aorta
18	chr2:112814400-112821400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:112814400-112831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:112814600-112816000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:112814600-112816000	Enhancers	HepG2	liver
22	chr2:112814600-112816400	Enhancers	Right Ventricle	heart
23	chr2:112814600-112816600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:112814600-112816600	Enhancers	Left Ventricle	heart
25	chr2:112814600-112817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:112814600-112817000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:112814600-112819000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:112814600-112819400	Weak transcription	Brain Angular Gyrus	brain
29	chr2:112814600-112819400	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:112814600-112820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:112814600-112820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:112814600-112821600	Weak transcription	Fetal Brain Female	brain
33	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:112814800-112815800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:112814800-112815800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:112814800-112815800	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:112814800-112815800	Enhancers	Fetal Muscle Leg	muscle
38	chr2:112814800-112815800	Weak transcription	HSMMtube	muscle
39	chr2:112814800-112816000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:112814800-112816000	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:112814800-112816000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:112814800-112816000	Genic enhancers	GM12878-XiMat	blood
43	chr2:112814800-112816000	Enhancers	HMEC	breast
44	chr2:112814800-112816000	Weak transcription	NHEK	skin
45	chr2:112814800-112816200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:112814800-112816600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:112814800-112816600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:112814800-112816600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:112814800-112816600	Enhancers	K562	blood
50	chr2:112814800-112816800	Weak transcription	Primary T cells from cord blood	blood

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