Variant report

Variant	rs11785601
Chromosome Location	chr8:64082130-64082131
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	CEBPB	chr8:64081748-64082590	HepG2	liver:	n/a	chr8:64081994-64082005
2	CHD1	chr8:64081774-64082245	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr8:64080237-64082198	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr8:64080370-64082302	K562	blood:	n/a	chr8:64080687-64080699 chr8:64080688-64080698
5	POLR2A	chr8:64080387-64082413	Hela-S3	cervix:	n/a	n/a
6	HCFC1	chr8:64080356-64082873	Hela-S3	cervix:	n/a	n/a
7	TBL1XR1	chr8:64081786-64082896	K562	blood:	n/a	n/a
8	POLR2A	chr8:64079543-64082486	GM12891	blood:	n/a	n/a
9	POLR2A	chr8:64079753-64082489	HepG2	liver:	n/a	n/a
10	STAT3	chr8:64081894-64082345	MCF10A-Er-Src	breast:	n/a	chr8:64081996-64082004
11	POLR2A	chr8:64081889-64085432	K562	blood:	n/a	n/a
12	USF2	chr8:64081921-64082861	GM12878	blood:	n/a	chr8:64082686-64082697
13	NRF1	chr8:64082097-64082184	GM12878	blood:	n/a	n/a
14	CEBPB	chr8:64081728-64082849	K562	blood:	n/a	chr8:64081994-64082005
15	POLR2A	chr8:64079589-64082179	IMR90	lung:	n/a	n/a
16	CEBPB	chr8:64080359-64083409	Hela-S3	cervix:	n/a	chr8:64083251-64083262 chr8:64083251-64083264 chr8:64081994-64082005
17	CHD1	chr8:64079830-64083117	IMR90	lung:	n/a	n/a
18	CEBPB	chr8:64081674-64082690	A549	lung:	n/a	chr8:64081994-64082005
19	IRF1	chr8:64081769-64083059	K562	blood:	n/a	chr8:64082579-64082592 chr8:64082350-64082364
20	CEBPB	chr8:64081573-64082753	IMR90	lung:	n/a	chr8:64081994-64082005
21	POLR2A	chr8:64079673-64082798	PBDE	blood:	n/a	n/a
22	CHD1	chr8:64080402-64082655	GM12878	blood:	n/a	n/a
23	REST	chr8:64080329-64082368	H1-neurons	neurons:	n/a	chr8:64081696-64081705
24	POLR2A	chr8:64080154-64082972	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:

Variant related genes	Relation type
YTHDF3-AS1	TF binding region
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10957277	0.85[CHD][hapmap]
rs13439842	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs1435457	0.82[CHD][hapmap]
rs1435458	0.85[CHD][hapmap]
rs2217827	0.82[CHD][hapmap]
rs4739067	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs6993229	0.82[CHD][hapmap]
rs72659895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464	0.85[CHD][hapmap]

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	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv890966	chr8:64073650-64099240	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64079800-64082400	Active TSS	Colonic Mucosa	Colon
2	chr8:64079800-64082600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:64080000-64082200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:64080000-64082200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:64080000-64082200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:64080000-64082200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:64080000-64082400	Active TSS	HSMM	muscle
8	chr8:64080000-64082600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:64080000-64082600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:64080000-64082600	Active TSS	Fetal Muscle Trunk	muscle
11	chr8:64080000-64082600	Active TSS	Fetal Stomach	stomach
12	chr8:64080000-64082800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:64080000-64082800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:64080000-64082800	Active TSS	A549	lung
15	chr8:64080000-64083200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:64080000-64083200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:64080000-64083200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:64080000-64083200	Active TSS	HSMMtube	muscle
19	chr8:64080000-64083200	Active TSS	K562	blood
20	chr8:64080000-64083400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:64080000-64083400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:64080000-64083400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:64080000-64083800	Active TSS	GM12878-XiMat	blood
24	chr8:64080000-64084200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:64080200-64082200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:64080200-64082200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:64080200-64082200	Active TSS	Dnd41	blood
28	chr8:64080200-64082200	Bivalent/Poised TSS	HepG2	liver
29	chr8:64080200-64082400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:64080200-64082400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:64080200-64082400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:64080200-64082400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:64080200-64082400	Active TSS	Aorta	Aorta
34	chr8:64080200-64082400	Active TSS	Brain Angular Gyrus	brain
35	chr8:64080200-64082400	Active TSS	Placenta	Placenta
36	chr8:64080200-64082400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr8:64080200-64082600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:64080200-64082600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:64080200-64082600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr8:64080200-64082600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:64080200-64082600	Active TSS	Fetal Intestine Small	intestine
42	chr8:64080200-64082600	Active TSS	Fetal Muscle Leg	muscle
43	chr8:64080200-64082600	Active TSS	Right Ventricle	heart
44	chr8:64080200-64082800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:64080200-64082800	Active TSS	NHEK	skin
46	chr8:64080200-64083200	Active TSS	NHDF-Ad	bronchial
47	chr8:64080200-64083200	Active TSS	NHLF	lung
48	chr8:64080200-64083400	Active TSS	HMEC	breast
49	chr8:64080200-64083800	Active TSS	Fetal Intestine Large	intestine
50	chr8:64080200-64084400	Active TSS	Psoas Muscle	Psoas

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