Variant report

Variant	rs3176807
Chromosome Location	chr12:9903810-9903811
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9903679..9905880-chr12:10079207..10081404,2	K562	blood:
2	chr12:9903072..9904066-chr12:10078179..10078803,2	MCF-7	breast:
3	chr12:9902845..9905965-chr18:46122603..46125602,4	K562	blood:
4	chr12:9903687..9905772-chr12:9958368..9961230,2	K562	blood:
5	chr12:9903079..9903979-chr12:10078128..10079168,4	K562	blood:
6	chr12:9903015..9904410-chr12:9949927..9951349,11	K562	blood:
7	chr12:9797900..9800750-chr12:9903468..9905563,2	K562	blood:
8	chr12:9903202..9904447-chr12:9950005..9951021,6	MCF-7	breast:
9	chr12:9903036..9905179-chr12:10078668..10080707,2	K562	blood:
10	chr12:9793433..9795814-chr12:9903081..9904600,2	K562	blood:
11	chr12:9901585..9904394-chr12:10018738..10020410,2	K562	blood:
12	chr12:9894583..9897209-chr12:9902973..9905034,4	K562	blood:
13	chr12:9786956..9789241-chr12:9902375..9904893,3	K562	blood:
14	chr12:9902845..9905395-chr18:46122603..46125600,2	K562	blood:
15	chr12:9903167..9904499-chr12:9949360..9951288,15	MCF-7	breast:
16	chr12:9785937..9789241-chr12:9902375..9905044,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256442	Chromatin interaction
ENSG00000272917	Chromatin interaction
ENSG00000233719	Chromatin interaction
ENSG00000256594	Chromatin interaction
ENSG00000255882	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1008611	0.89[ASN][1000 genomes]
rs1051065	0.81[ASN][1000 genomes]
rs10743821	0.89[ASN][1000 genomes]
rs10743822	0.89[ASN][1000 genomes]
rs10772119	0.81[ASN][1000 genomes]
rs10772120	0.81[ASN][1000 genomes]
rs11052718	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052785	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12368445	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578698	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12582616	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1990533	0.89[ASN][1000 genomes]
rs2192433	0.89[ASN][1000 genomes]
rs2192434	0.89[ASN][1000 genomes]
rs2192435	0.89[ASN][1000 genomes]
rs2192439	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2401396	0.89[ASN][1000 genomes]
rs2401397	0.81[ASN][1000 genomes]
rs2401398	0.81[ASN][1000 genomes]
rs3136564	0.83[ASN][1000 genomes]
rs3136577	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176792	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3176800	0.81[ASN][1000 genomes]
rs3176802	0.81[ASN][1000 genomes]
rs3176804	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176806	0.81[ASN][1000 genomes]
rs3176808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34201389	0.89[ASN][1000 genomes]
rs34279883	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35494990	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763835	0.89[ASN][1000 genomes]
rs61913428	0.89[ASN][1000 genomes]
rs6416258	0.81[ASN][1000 genomes]
rs704223	0.81[ASN][1000 genomes]
rs7954062	0.84[ASN][1000 genomes]
rs929615	0.81[ASN][1000 genomes]
rs982511	0.89[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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv976572	chr12:9896625-9906830	Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9893400-9910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:9895600-9906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:9896400-9911000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:9902800-9905000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:9903000-9904000	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:9903000-9904200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:9903000-9904200	Active TSS	K562	blood
8	chr12:9903000-9904600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:9903000-9904800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:9903000-9904800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:9903000-9904800	Enhancers	Dnd41	blood
12	chr12:9903200-9904000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:9903200-9904000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:9903200-9904000	Enhancers	Adipose Nuclei	Adipose
15	chr12:9903200-9904000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:9903200-9904000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr12:9903200-9904200	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:9903200-9904200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:9903200-9904200	Enhancers	Liver	Liver
20	chr12:9903200-9904200	Active TSS	Brain Hippocampus Middle	brain
21	chr12:9903200-9904400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:9903200-9904400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:9903200-9904400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:9903200-9904400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:9903200-9904600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:9903200-9904600	Enhancers	Fetal Thymus	thymus
27	chr12:9903200-9905800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:9903400-9904000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:9903400-9904000	Weak transcription	Fetal Kidney	kidney
30	chr12:9903400-9904200	Enhancers	Primary B cells from cord blood	blood
31	chr12:9903400-9907600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:9903600-9904200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr12:9903600-9904200	Enhancers	Hela-S3	cervix
35	chr12:9903600-9904400	Weak transcription	Thymus	Thymus
36	chr12:9903600-9904600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:9903600-9904600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:9903600-9905200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:9903600-9911000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:9903800-9904000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:9903800-9904000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:9903800-9904000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:9903800-9904000	Flanking Active TSS	A549	lung
44	chr12:9903800-9904000	Enhancers	GM12878-XiMat	blood
45	chr12:9903800-9904200	Enhancers	Primary T cells from cord blood	blood
46	chr12:9903800-9904200	Enhancers	Primary hematopoietic stem cells	blood
47	chr12:9903800-9904200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr12:9903800-9904400	Enhancers	HUVEC	blood vessel
49	chr12:9903800-9904600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:9903800-9904600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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