Variant report

Variant	rs67692166
Chromosome Location	chr3:135970704-135970705
allele	A/C
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	MXI1	chr3:135968554-135970729	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr3:135968757-135970751	SK-N-MC	brain:	n/a	n/a
3	CEBPB	chr3:135970331-135970764	K562	blood:	n/a	chr3:135970665-135970676 chr3:135970576-135970587 chr3:135970574-135970587 chr3:135970574-135970587 chr3:135970574-135970585
4	POLR2A	chr3:135968928-135970737	K562	blood:	n/a	n/a
5	FOS	chr3:135970506-135970706	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF263	chr3:135969023-135970736	HEK293-T-REx	kidney:	n/a	n/a
7	CEBPB	chr3:135970384-135970762	HepG2	liver:	n/a	chr3:135970665-135970676 chr3:135970576-135970587 chr3:135970574-135970587 chr3:135970574-135970587 chr3:135970574-135970585
8	CEBPB	chr3:135970392-135970768	Hela-S3	cervix:	n/a	chr3:135970665-135970676 chr3:135970576-135970587 chr3:135970574-135970587 chr3:135970574-135970587 chr3:135970574-135970585
9	CEBPB	chr3:135970370-135970714	HepG2	liver:	n/a	chr3:135970665-135970676 chr3:135970576-135970587 chr3:135970574-135970587 chr3:135970574-135970587 chr3:135970574-135970585
10	CTCF	chr3:135968830-135970754	SK-N-SH	brain:	n/a	chr3:135969505-135969518 chr3:135969187-135969203
11	RCOR1	chr3:135968572-135970807	IMR90	lung:	n/a	n/a
12	CEBPB	chr3:135970385-135970726	K562	blood:	n/a	chr3:135970665-135970676 chr3:135970576-135970587 chr3:135970574-135970587 chr3:135970574-135970587 chr3:135970574-135970585
13	CEBPB	chr3:135970397-135970755	HepG2	liver:	n/a	chr3:135970665-135970676 chr3:135970576-135970587 chr3:135970574-135970587 chr3:135970574-135970587 chr3:135970574-135970585
14	CEBPB	chr3:135970331-135970724	MCF-7	breast:	n/a	chr3:135970665-135970676 chr3:135970576-135970587 chr3:135970574-135970587 chr3:135970574-135970587 chr3:135970574-135970585

No.	Distal block	Cell Line	Cell type
1	chr3:135968568..135972532-chr3:135974380..135977728,5	K562	blood:
2	chr3:135967895..135971293-chr3:135973278..135977937,5	MCF-7	breast:
3	chr3:135912206..135917353-chr3:135967047..135972220,20	MCF-7	breast:
4	chr3:135969104..135971090-chr3:136470031..136473091,3	MCF-7	breast:
5	chr3:135912523..135919453-chr3:135966949..135972062,29	K562	blood:
6	chr3:135912324..135920790-chr3:135965276..135971841,24	K562	blood:

Variant related genes	Relation type
PCCB	TF binding region
ENSG00000114054	Chromatin interaction
ENSG00000174579	Chromatin interaction
ENSG00000261758	Chromatin interaction
ENSG00000118007	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10513002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13067714	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16843879	0.93[EUR][1000 genomes]
rs17199880	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17199978	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17265675	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17266364	0.87[AMR][1000 genomes]
rs3913715	0.87[EUR][1000 genomes]
rs4125861	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55654524	0.81[EUR][1000 genomes]
rs56057807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56264828	0.87[EUR][1000 genomes]
rs56336182	0.93[EUR][1000 genomes]
rs60270684	0.87[AMR][1000 genomes]
rs66494666	0.87[AMR][1000 genomes]
rs67230667	0.87[AMR][1000 genomes]
rs67389407	0.87[EUR][1000 genomes]
rs67452583	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67525027	0.87[EUR][1000 genomes]
rs67677899	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67963055	0.87[EUR][1000 genomes]
rs6808143	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72985474	0.82[AFR][1000 genomes]
rs73224201	0.93[AMR][1000 genomes]
rs7650075	0.87[EUR][1000 genomes]
rs7652176	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv933522	chr3:135968919-135981180	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
4	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135969600-135970800	Flanking Active TSS	GM12878-XiMat	blood
2	chr3:135969600-135970800	Flanking Active TSS	HepG2	liver
3	chr3:135969800-135970800	Flanking Active TSS	Dnd41	blood
4	chr3:135969800-135971000	Enhancers	Small Intestine	intestine
5	chr3:135970000-135971000	Enhancers	Primary B cells from cord blood	blood
6	chr3:135970000-135971000	Enhancers	Placenta	Placenta
7	chr3:135970000-135974400	Weak transcription	Ovary	ovary
8	chr3:135970000-135977200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:135970000-135980000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:135970200-135970800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:135970200-135970800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:135970200-135970800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:135970200-135971000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:135970200-135971000	Enhancers	Fetal Intestine Large	intestine
15	chr3:135970200-135971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:135970200-135971200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:135970200-135971400	Enhancers	Fetal Intestine Small	intestine
18	chr3:135970200-135972400	Enhancers	Liver	Liver
19	chr3:135970200-135973400	Weak transcription	Fetal Stomach	stomach
20	chr3:135970200-135974400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:135970200-135974600	Weak transcription	Left Ventricle	heart
22	chr3:135970200-135975000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:135970200-135979000	Weak transcription	Esophagus	oesophagus
24	chr3:135970200-135980400	Weak transcription	Gastric	stomach
25	chr3:135970200-135984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:135970200-135996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:135970400-135970800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:135970400-135970800	Enhancers	Primary T cells from cord blood	blood
29	chr3:135970400-135970800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr3:135970400-135970800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:135970400-135970800	Enhancers	Brain Substantia Nigra	brain
32	chr3:135970400-135970800	Enhancers	Fetal Heart	heart
33	chr3:135970400-135970800	Enhancers	Right Ventricle	heart
34	chr3:135970400-135971000	Enhancers	Pancreas	Pancrea
35	chr3:135970400-135971000	Enhancers	NHEK	skin
36	chr3:135970400-135971200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:135970400-135971400	Enhancers	Adipose Nuclei	Adipose
38	chr3:135970400-135971400	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:135970400-135971400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:135970400-135974000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:135970400-135974200	Weak transcription	Thymus	Thymus
42	chr3:135970400-135974200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr3:135970400-135974400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:135970400-135974400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:135970400-135974400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:135970400-135974400	Weak transcription	Fetal Lung	lung
47	chr3:135970400-135974600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:135970400-135974800	Weak transcription	Colonic Mucosa	Colon
49	chr3:135970400-135975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:135970400-135975000	Weak transcription	Rectal Smooth Muscle	rectum

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