Variant report

Variant	rs16844058
Chromosome Location	chr2:210868224-210868225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:210867212..210869682-chr2:210892589..210895075,2	K562	blood:
2	chr2:210866819..210868675-chr2:211034282..211036994,3	K562	blood:
3	chr2:210866819..210870543-chr2:211034282..211037464,4	K562	blood:
4	chr2:210866282..210870548-chr2:211034114..211037570,6	MCF-7	breast:
5	chr2:210855722..210858496-chr2:210867388..210869404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263530	Chromatin interaction
ENSG00000231294	Chromatin interaction
ENSG00000272807	Chromatin interaction
ENSG00000144445	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10179268	1.00[ASN][1000 genomes]
rs10192315	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1155845	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11675027	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11682370	1.00[ASN][1000 genomes]
rs11688922	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12989455	1.00[ASN][1000 genomes]
rs13006132	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13009071	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13009890	1.00[ASN][1000 genomes]
rs13011543	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013030	1.00[CHB][hapmap]
rs13015354	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13017647	1.00[ASN][1000 genomes]
rs13017752	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13018349	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13019613	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13021055	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13415601	1.00[ASN][1000 genomes]
rs1509570	1.00[ASN][1000 genomes]
rs1509571	1.00[ASN][1000 genomes]
rs1509572	1.00[ASN][1000 genomes]
rs2160020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2539005	1.00[ASN][1000 genomes]
rs263668	1.00[ASN][1000 genomes]
rs263675	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs263680	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs263681	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs263686	1.00[ASN][1000 genomes]
rs34334556	1.00[ASN][1000 genomes]
rs34678259	1.00[ASN][1000 genomes]
rs35125543	1.00[ASN][1000 genomes]
rs62202972	1.00[ASN][1000 genomes]
rs6714161	1.00[ASN][1000 genomes]
rs6716836	1.00[ASN][1000 genomes]
rs6732072	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6732486	1.00[ASN][1000 genomes]
rs6732506	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6754591	1.00[ASN][1000 genomes]
rs6760874	1.00[ASN][1000 genomes]
rs71350736	1.00[ASN][1000 genomes]
rs7609345	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210866600-210868400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:210866600-210868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:210866600-210868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:210866600-210868600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:210866600-210868600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:210866600-210868800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:210866600-210869200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:210866800-210868400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:210866800-210868400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:210866800-210868400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:210866800-210868400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:210866800-210868400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:210866800-210868400	Active TSS	Fetal Muscle Trunk	muscle
14	chr2:210866800-210868400	Active TSS	Left Ventricle	heart
15	chr2:210866800-210868400	Active TSS	Ovary	ovary
16	chr2:210866800-210868400	Active TSS	Right Ventricle	heart
17	chr2:210866800-210868800	Active TSS	A549	lung
18	chr2:210866800-210869000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr2:210866800-210869000	Active TSS	Right Atrium	heart
20	chr2:210867000-210868400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:210867000-210868400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:210867000-210868400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr2:210867000-210868400	Active TSS	Colonic Mucosa	Colon
24	chr2:210867000-210868400	Active TSS	Stomach Mucosa	stomach
25	chr2:210867000-210868400	Active TSS	GM12878-XiMat	blood
26	chr2:210867000-210868400	Active TSS	Hela-S3	cervix
27	chr2:210867000-210868400	Active TSS	NHDF-Ad	bronchial
28	chr2:210867000-210868600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:210867000-210868600	Active TSS	NHLF	lung
30	chr2:210867000-210868800	Active TSS	HSMM	muscle
31	chr2:210867000-210868800	Active TSS	HSMMtube	muscle
32	chr2:210867000-210868800	Active TSS	K562	blood
33	chr2:210867200-210868800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:210867600-210868400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr2:210867600-210868400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr2:210867600-210868600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr2:210867600-210868600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:210867600-210868600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr2:210867600-210868600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:210867600-210869400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:210867800-210868400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr2:210867800-210868400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:210867800-210868400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:210867800-210868400	Flanking Active TSS	Fetal Stomach	stomach
45	chr2:210867800-210868400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr2:210867800-210868400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr2:210867800-210868600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:210867800-210868600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr2:210867800-210868600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:210867800-210868600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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