Variant report

Variant	rs12674646
Chromosome Location	chr8:103671452-103671453
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
2	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
3	chr8:103612597..103614487-chr8:103669576..103671484,2	MCF-7	breast:
4	chr1:227503315..227505828-chr8:103669549..103671492,2	MCF-7	breast:
5	chr8:103669018..103671506-chr8:103743159..103745157,2	MCF-7	breast:
6	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
7	chr8:103422573..103426010-chr8:103669254..103672542,3	MCF-7	breast:
8	chr8:103669620..103672058-chr8:103696948..103699668,2	K562	blood:
9	chr8:103669378..103671910-chr8:103714543..103716720,2	MCF-7	breast:
10	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10955288	0.83[AFR][1000 genomes]
rs12546601	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547574	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548858	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12549399	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12674767	0.83[AFR][1000 genomes]
rs12675196	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675239	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680362	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680908	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682093	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869676	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869695	0.96[ASN][1000 genomes]
rs16869724	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436946	0.93[ASN][1000 genomes]
rs2471847	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2511701	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511718	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2511719	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2511730	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2734824	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2916570	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3018443	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35509459	0.83[AFR][1000 genomes]
rs55750587	0.83[AFR][1000 genomes]
rs55814340	0.83[AFR][1000 genomes]
rs56929055	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72683098	0.83[AFR][1000 genomes]
rs72683100	0.83[AFR][1000 genomes]
rs72683101	0.83[AFR][1000 genomes]
rs72683102	0.83[AFR][1000 genomes]
rs72685109	0.81[ASN][1000 genomes]
rs72685110	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72685117	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72685118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72685123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72685128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276720	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9642792	0.83[ASN][1000 genomes]
rs980112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103669400-103674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:103669800-103671600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:103669800-103671800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:103669800-103673000	Enhancers	K562	blood
5	chr8:103669800-103674400	Enhancers	Primary T cells from cord blood	blood
6	chr8:103670000-103671600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:103670000-103674400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:103670000-103674400	Weak transcription	Psoas Muscle	Psoas
9	chr8:103670000-103674600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:103670200-103671600	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:103670200-103672000	Enhancers	Lung	lung
12	chr8:103670200-103672200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:103670200-103672200	Enhancers	Primary B cells from cord blood	blood
14	chr8:103670200-103672600	Enhancers	Fetal Thymus	thymus
15	chr8:103670200-103672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:103670200-103674400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:103670400-103672400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:103670600-103672000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:103670600-103674400	Weak transcription	Liver	Liver
20	chr8:103670600-103674400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:103670600-103674600	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:103670600-103674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:103670600-103674600	Weak transcription	Brain Angular Gyrus	brain
24	chr8:103670600-103675200	Weak transcription	Gastric	stomach
25	chr8:103670800-103673400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:103670800-103673400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:103670800-103674400	Weak transcription	Stomach Mucosa	stomach
28	chr8:103670800-103674600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:103670800-103674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:103670800-103674600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:103670800-103674800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:103670800-103675000	Weak transcription	Brain Substantia Nigra	brain
33	chr8:103670800-103675000	Weak transcription	Fetal Intestine Large	intestine
34	chr8:103670800-103675000	Weak transcription	NH-A	brain
35	chr8:103670800-103675200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:103670800-103678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:103671000-103671600	Enhancers	Fetal Lung	lung
38	chr8:103671000-103671800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:103671000-103672800	Weak transcription	Spleen	Spleen
40	chr8:103671000-103672800	Enhancers	GM12878-XiMat	blood
41	chr8:103671000-103673600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:103671000-103673600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:103671000-103673800	Weak transcription	Right Atrium	heart
44	chr8:103671000-103674000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:103671000-103674000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:103671000-103674000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:103671000-103674200	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:103671000-103674400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:103671000-103674400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:103671000-103674400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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