Variant report

Variant	rs34983493
Chromosome Location	chr2:112657315-112657316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112640266..112649080-chr2:112649576..112660203,14	MCF-7	breast:
2	chr2:112654702..112658000-chr2:112810291..112813027,3	K562	blood:
3	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
4	chr2:112651539..112654934-chr2:112657187..112660968,3	K562	blood:
5	chr2:112639319..112643119-chr2:112654632..112657707,5	K562	blood:
6	chr2:112641269..112644137-chr2:112654774..112658202,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153107	Chromatin interaction
ENSG00000236307	Chromatin interaction
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10192602	0.81[ASN][1000 genomes]
rs10195619	0.81[ASN][1000 genomes]
rs10496439	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864895	0.81[ASN][1000 genomes]
rs1122970	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673729	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674226	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11674883	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11674891	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11675946	0.81[ASN][1000 genomes]
rs11678522	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679801	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11680463	0.82[EUR][1000 genomes]
rs11681063	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11682629	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11683694	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684321	0.84[EUR][1000 genomes]
rs11685190	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11686647	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687451	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11692445	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13003919	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13006203	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013340	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13013943	0.84[ASN][1000 genomes]
rs13020304	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13020353	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13025651	0.82[EUR][1000 genomes]
rs13027171	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033393	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17174697	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17779482	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967530	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271701	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2871876	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34527376	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34705448	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34875611	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34928784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34974369	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35189728	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35379879	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35382200	0.81[EUR][1000 genomes]
rs35471545	0.81[ASN][1000 genomes]
rs35507976	0.89[EUR][1000 genomes]
rs35643003	0.81[EUR][1000 genomes]
rs35735892	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35757708	0.85[EUR][1000 genomes]
rs3761699	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811633	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3811634	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4264571	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848229	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4848238	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4848241	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4848861	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848874	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848899	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6541942	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716528	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6731215	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6736093	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743523	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6754526	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6755101	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71414616	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7349221	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7370418	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74182850	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7578435	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7595212	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870761	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs870763	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv834333	chr2:112490211-112658347	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	nsv961869	chr2:112645626-112660962	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	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
12	nsv998028	chr2:112649472-112734015	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv582701	chr2:112649472-112740597	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
14	nsv526647	chr2:112651316-112738562	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv582702	chr2:112651316-112738562	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv3437465	chr2:112654906-112657454	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112655000-112657400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:112655000-112657400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:112655000-112657600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:112655000-112658200	Active TSS	Brain Hippocampus Middle	brain
5	chr2:112655200-112657400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:112655200-112657400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:112655200-112657600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:112655200-112657600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:112655200-112657600	Active TSS	Left Ventricle	heart
10	chr2:112655200-112658000	Active TSS	Fetal Intestine Large	intestine
11	chr2:112655200-112658200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:112655200-112659400	Active TSS	Right Atrium	heart
13	chr2:112655400-112657400	Active TSS	Fetal Kidney	kidney
14	chr2:112655400-112657600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:112655400-112657600	Active TSS	Ovary	ovary
16	chr2:112655400-112657800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr2:112655400-112657800	Active TSS	Brain Angular Gyrus	brain
18	chr2:112655400-112657800	Active TSS	Colon Smooth Muscle	Colon
19	chr2:112655400-112658200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:112655400-112658800	Active TSS	Aorta	Aorta
21	chr2:112655600-112657400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr2:112655600-112657400	Active TSS	Liver	Liver
23	chr2:112655600-112657400	Active TSS	Duodenum Mucosa	Duodenum
24	chr2:112655600-112657400	Active TSS	Gastric	stomach
25	chr2:112655600-112657400	Active TSS	Lung	lung
26	chr2:112655600-112657400	Active TSS	Pancreas	Pancrea
27	chr2:112655600-112657400	Active TSS	Right Ventricle	heart
28	chr2:112655600-112657400	Active TSS	HUVEC	blood vessel
29	chr2:112655600-112657600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:112655600-112657600	Active TSS	Fetal Intestine Small	intestine
31	chr2:112655600-112657600	Active TSS	Rectal Smooth Muscle	rectum
32	chr2:112655600-112658400	Active TSS	Brain Anterior Caudate	brain
33	chr2:112655600-112658400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:112655600-112658600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:112655600-112658800	Active TSS	Brain Substantia Nigra	brain
36	chr2:112655600-112658800	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr2:112655600-112659000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:112655600-112659000	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:112655600-112659000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:112655600-112659200	Active TSS	Stomach Smooth Muscle	stomach
41	chr2:112655800-112657600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr2:112656200-112657400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr2:112656200-112657400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr2:112656200-112657400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr2:112656200-112657400	Bivalent/Poised TSS	HSMM	muscle
46	chr2:112656200-112657400	Bivalent/Poised TSS	NHLF	lung
47	chr2:112656200-112657600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr2:112656200-112657600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr2:112656200-112658000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:112656200-112658200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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