Variant report

Variant	rs61329743
Chromosome Location	chr8:131194556-131194557
allele	C/T
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	RELA	chr8:131194537-131195011	GM12878	blood:	n/a	chr8:131194753-131194762 chr8:131194753-131194762
2	RELA	chr8:131194545-131195033	GM12891	blood:	n/a	chr8:131194753-131194762 chr8:131194753-131194762
3	RUNX3	chr8:131194500-131195024	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131194316..131196588-chr8:131199772..131201320,2	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57213366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58012382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58498075	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58664881	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59411017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60001112	1.00[AMR][1000 genomes]
rs60043570	1.00[AMR][1000 genomes]
rs61123306	1.00[AMR][1000 genomes]
rs61358542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61578845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409347	1.00[AMR][1000 genomes]
rs73423598	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
3	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
4	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
5	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
6	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
7	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:131172200-131198800	Weak transcription	Small Intestine	intestine
9	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:131172600-131199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
12	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:131173000-131198600	Weak transcription	Brain Angular Gyrus	brain
14	chr8:131173600-131206600	Weak transcription	Dnd41	blood
15	chr8:131174600-131198800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:131179000-131194600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:131179000-131198800	Weak transcription	Fetal Lung	lung
19	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:131179200-131194600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
22	chr8:131179400-131197200	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:131179400-131199800	Weak transcription	Lung	lung
24	chr8:131179600-131194800	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:131179600-131198800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:131179600-131199800	Weak transcription	Spleen	Spleen
27	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
28	chr8:131179800-131194600	Weak transcription	Primary B cells from cord blood	blood
29	chr8:131179800-131194600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:131179800-131198200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:131179800-131198600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:131179800-131198800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:131179800-131199200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:131179800-131205000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:131179800-131206800	Weak transcription	Fetal Thymus	thymus
36	chr8:131179800-131207800	Weak transcription	Brain Germinal Matrix	brain
37	chr8:131180000-131206000	Weak transcription	K562	blood
38	chr8:131180200-131207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:131180400-131194600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:131181000-131194600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:131181000-131194600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:131181000-131198800	Weak transcription	Fetal Intestine Large	intestine
43	chr8:131181000-131208600	Weak transcription	Right Ventricle	heart
44	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
45	chr8:131181200-131206000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
47	chr8:131182000-131199400	Weak transcription	Liver	Liver
48	chr8:131183600-131194600	Weak transcription	Adipose Nuclei	Adipose
49	chr8:131184400-131194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:131184400-131206800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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