Variant report

Variant	rs10206255
Chromosome Location	chr2:112834876-112834877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112834721..112837451-chr2:113032279..113034796,2	K562	blood:
2	chr2:112817222..112820488-chr2:112832870..112835858,3	K562	blood:
3	chr2:112812782..112814740-chr2:112834381..112836933,4	MCF-7	breast:
4	chr2:112833877..112836223-chr2:112843385..112845763,2	K562	blood:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10084408	1.00[GIH][hapmap]
rs10165614	1.00[GIH][hapmap]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10171359	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172310	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10174680	1.00[GIH][hapmap]
rs10175344	1.00[ASN][1000 genomes]
rs10175752	0.88[AFR][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10180086	1.00[GIH][hapmap]
rs10181117	1.00[GIH][hapmap]
rs10182451	1.00[ASN][1000 genomes]
rs10182764	1.00[ASN][1000 genomes]
rs10182931	1.00[ASN][1000 genomes]
rs10183003	1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10185747	1.00[GIH][hapmap]
rs10197735	1.00[ASN][1000 genomes]
rs10201041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204653	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10204929	0.88[AFR][1000 genomes]
rs10205793	1.00[GIH][hapmap]
rs10209260	1.00[GIH][hapmap]
rs10211152	1.00[GIH][hapmap]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	1.00[ASN][1000 genomes]
rs13383743	1.00[ASN][1000 genomes]
rs13387346	1.00[GIH][hapmap]
rs13391959	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394094	1.00[ASN][1000 genomes]
rs13401258	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402707	1.00[GIH][hapmap]
rs13404771	1.00[GIH][hapmap]
rs13411851	1.00[ASN][1000 genomes]
rs13412743	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13432863	1.00[GIH][hapmap]
rs2230517	1.00[GIH][hapmap]
rs56371451	1.00[ASN][1000 genomes]
rs6705046	1.00[ASN][1000 genomes]
rs6723394	1.00[GIH][hapmap]
rs67246870	1.00[ASN][1000 genomes]
rs72825696	1.00[ASN][1000 genomes]
rs72829620	1.00[ASN][1000 genomes]
rs72829658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829697	0.88[AFR][1000 genomes]
rs72831604	0.88[AFR][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:8 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:112814800-112842000	Weak transcription	Fetal Heart	heart
5	chr2:112816600-112866200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:112817400-112835400	Weak transcription	Esophagus	oesophagus
8	chr2:112817400-112835400	Weak transcription	Right Ventricle	heart
9	chr2:112818600-112836600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:112819200-112838200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:112819600-112836400	Strong transcription	Fetal Intestine Large	intestine
12	chr2:112820400-112847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:112821400-112835400	Weak transcription	Gastric	stomach
14	chr2:112821400-112835400	Weak transcription	Ovary	ovary
15	chr2:112821400-112835400	Weak transcription	Spleen	Spleen
16	chr2:112821400-112849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:112821600-112841600	Weak transcription	Brain Anterior Caudate	brain
18	chr2:112822200-112854400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:112822400-112835200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:112822800-112835400	Weak transcription	Pancreas	Pancrea
21	chr2:112822800-112876800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:112823400-112835200	Weak transcription	Thymus	Thymus
23	chr2:112823600-112844200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:112824200-112844000	Weak transcription	Fetal Brain Male	brain
25	chr2:112825000-112838400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:112825400-112838800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:112825600-112835200	Weak transcription	Left Ventricle	heart
28	chr2:112825600-112835200	Weak transcription	Lung	lung
29	chr2:112825600-112835200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:112825600-112835400	Weak transcription	Aorta	Aorta
31	chr2:112825600-112835400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:112825600-112835400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:112825600-112838400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:112825800-112835200	Weak transcription	Colonic Mucosa	Colon
35	chr2:112826000-112839000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:112826400-112835200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:112826800-112835200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:112827200-112842600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:112827600-112835400	Weak transcription	Adipose Nuclei	Adipose
40	chr2:112828800-112835400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:112829600-112835200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:112829600-112836000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:112829600-112850400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:112829800-112841800	Weak transcription	Brain Angular Gyrus	brain
45	chr2:112829800-112844200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:112830000-112839400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:112830200-112835600	Weak transcription	Brain Substantia Nigra	brain
48	chr2:112830200-112838200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:112831000-112841800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:112831000-112849600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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