Variant report

Variant	rs4898530
Chromosome Location	chr12:50204709-50204710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50203835..50205755-chr12:50207398..50210564,3	K562	blood:
2	chr12:50203774..50205961-chr12:50217957..50219971,2	K562	blood:
3	chr12:50202887..50205755-chr12:50205906..50208898,2	K562	blood:
4	chr12:50200446..50205468-chr12:50207348..50211696,6	MCF-7	breast:
5	chr12:50202257..50205352-chr12:50220114..50222671,5	MCF-7	breast:
6	chr12:50191925..50194204-chr12:50203904..50205859,2	K562	blood:
7	chr12:50189974..50194712-chr12:50201594..50205995,4	K562	blood:
8	chr12:50197457..50199102-chr12:50202144..50204971,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167566	Chromatin interaction
ENSG00000258057	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1075366	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1077498	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1077499	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10783320	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875969	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169161	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169167	0.82[AFR][1000 genomes]
rs1470909	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290442	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2336448	0.96[CEU][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2603104	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2603107	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2603110	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2603111	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2603112	0.80[EUR][1000 genomes]
rs2720287	0.80[EUR][1000 genomes]
rs2720291	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2720296	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2720298	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2954129	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4463912	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66721590	0.81[EUR][1000 genomes]
rs66924167	0.81[EUR][1000 genomes]
rs729281	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7313400	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7313563	0.81[EUR][1000 genomes]
rs7488361	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977112	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50174400-50209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:50179200-50213600	Weak transcription	Hela-S3	cervix
3	chr12:50187200-50214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:50189200-50214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:50193800-50214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:50195200-50218400	Weak transcription	K562	blood
7	chr12:50195800-50214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:50197600-50205000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:50197600-50220400	Weak transcription	A549	lung
10	chr12:50199400-50218400	Weak transcription	HMEC	breast
11	chr12:50199600-50205600	Enhancers	Right Atrium	heart
12	chr12:50199600-50205800	Weak transcription	Primary B cells from cord blood	blood
13	chr12:50199600-50214600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:50199600-50214800	Weak transcription	Liver	Liver
15	chr12:50199800-50206200	Enhancers	Fetal Heart	heart
16	chr12:50200000-50209800	Weak transcription	Spleen	Spleen
17	chr12:50200000-50213800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:50200000-50214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:50200000-50214600	Weak transcription	Pancreas	Pancrea
20	chr12:50200000-50216800	Weak transcription	NHEK	skin
21	chr12:50200000-50219400	Weak transcription	Gastric	stomach
22	chr12:50200200-50214800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:50200400-50205600	Enhancers	Left Ventricle	heart
24	chr12:50200400-50214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:50200400-50215000	Weak transcription	Dnd41	blood
26	chr12:50200600-50209600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:50200800-50205600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:50201200-50205600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:50201600-50205000	Enhancers	Placenta	Placenta
30	chr12:50201600-50205200	Enhancers	Right Ventricle	heart
31	chr12:50201600-50205600	Enhancers	Fetal Thymus	thymus
32	chr12:50201800-50205000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:50201800-50205200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:50201800-50205400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:50201800-50205600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr12:50202000-50205200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:50202000-50205200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:50202000-50205600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:50202000-50205600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:50202200-50205000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:50202200-50205200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:50202200-50205600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:50202200-50217000	Weak transcription	HepG2	liver
44	chr12:50202200-50218400	Weak transcription	Fetal Brain Female	brain
45	chr12:50202400-50209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:50202600-50205400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:50202800-50205600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:50202800-50205600	Enhancers	Fetal Stomach	stomach
49	chr12:50202800-50209800	Weak transcription	Esophagus	oesophagus
50	chr12:50203000-50205000	Enhancers	H9 Cell Line	embryonic stem cell

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