Variant report

Variant	rs12680942
Chromosome Location	chr8:131264033-131264034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:131263826-131264101	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:131263948-131264160	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131263978..131265844-chr8:131269482..131272106,2	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1017281	0.99[ASN][1000 genomes]
rs10956514	0.99[ASN][1000 genomes]
rs1118887	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548888	0.90[ASN][1000 genomes]
rs12549794	0.90[ASN][1000 genomes]
rs1469288	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17212137	0.82[ASN][1000 genomes]
rs17284725	0.96[ASN][1000 genomes]
rs17285138	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1978550	0.83[ASN][1000 genomes]
rs2033059	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2114196	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2894508	0.81[ASN][1000 genomes]
rs34656350	0.97[ASN][1000 genomes]
rs4733571	0.95[ASN][1000 genomes]
rs4733775	0.90[ASN][1000 genomes]
rs4733776	0.80[ASN][1000 genomes]
rs4733777	0.98[ASN][1000 genomes]
rs4733781	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524650	0.90[ASN][1000 genomes]
rs62525919	0.99[ASN][1000 genomes]
rs62525923	0.80[ASN][1000 genomes]
rs6470812	0.82[AFR][1000 genomes]
rs7012705	0.90[ASN][1000 genomes]
rs72722365	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832651	0.83[ASN][1000 genomes]
rs7834461	0.80[ASN][1000 genomes]
rs7837226	0.80[ASN][1000 genomes]
rs876575	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
2	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
3	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:131250800-131270600	Weak transcription	NH-A	brain
7	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
9	chr8:131255400-131265200	Weak transcription	HSMM	muscle
10	chr8:131256000-131267000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:131256600-131268200	Weak transcription	HSMMtube	muscle
12	chr8:131257200-131264600	Weak transcription	Osteobl	bone
13	chr8:131257400-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:131257400-131281600	Weak transcription	Gastric	stomach
15	chr8:131257600-131265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:131258000-131275400	Weak transcription	Stomach Mucosa	stomach
17	chr8:131258400-131267200	Weak transcription	Adipose Nuclei	Adipose
18	chr8:131258600-131267000	Weak transcription	HepG2	liver
19	chr8:131260000-131275200	Weak transcription	Fetal Intestine Small	intestine
20	chr8:131260600-131271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:131260800-131265000	Weak transcription	A549	lung
22	chr8:131260800-131266000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:131260800-131270200	Weak transcription	Right Ventricle	heart
24	chr8:131260800-131272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:131261000-131264800	Weak transcription	Small Intestine	intestine
26	chr8:131261000-131268000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:131261000-131268000	Weak transcription	Psoas Muscle	Psoas
28	chr8:131261200-131274400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:131261400-131265200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:131261400-131271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:131261400-131275800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:131261600-131264600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:131261600-131264800	Weak transcription	NHLF	lung
34	chr8:131261600-131265000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:131261600-131266600	Weak transcription	HUVEC	blood vessel
36	chr8:131261600-131267200	Weak transcription	Fetal Stomach	stomach
37	chr8:131261600-131268400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:131261600-131270400	Weak transcription	Spleen	Spleen
39	chr8:131261600-131270400	Weak transcription	NHEK	skin
40	chr8:131261600-131275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:131261800-131264800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:131261800-131265000	Weak transcription	HMEC	breast
43	chr8:131261800-131265800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr8:131261800-131276000	Weak transcription	K562	blood
45	chr8:131262000-131271600	Weak transcription	Primary B cells from cord blood	blood
46	chr8:131262200-131264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:131262200-131264800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr8:131262200-131265000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:131262200-131267400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:131262200-131268200	Weak transcription	Left Ventricle	heart

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