Variant report

Variant	rs55857164
Chromosome Location	chr3:150135841-150135842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:150135770-150136080	A549	lung:	n/a	n/a
2	POLR2A	chr3:150135087-150138468	K562	blood:	n/a	n/a
3	STAT3	chr3:150135818-150135988	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr3:150135450-150135883	MCF-7	breast:	n/a	n/a
5	POLR2A	chr3:150135129-150136472	PANC-1	pancreas:	n/a	n/a
6	CEBPB	chr3:150135554-150136074	IMR90	lung:	n/a	n/a
7	CEBPB	chr3:150135754-150136100	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr3:150135612-150136137	K562	blood:	n/a	n/a
9	FOS	chr3:150135592-150136104	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150100256..150103024-chr3:150133786..150136650,2	K562	blood:
2	chr3:150134899..150136679-chr3:150137562..150139549,2	MCF-7	breast:
3	chr3:149955070..149958943-chr3:150133193..150137279,5	MCF-7	breast:
4	chr3:150133801..150136735-chr3:150211220..150213846,2	MCF-7	breast:
5	chr3:150134729..150137378-chr3:150149401..150152677,3	MCF-7	breast:
6	chr3:150130662..150134020-chr3:150134493..150137721,4	MCF-7	breast:

No data

Variant related genes	Relation type
TSC22D2	TF binding region
ENSG00000244541	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56203514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56782857	0.83[AFR][1000 genomes]
rs58143991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59185841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59653532	1.00[AMR][1000 genomes]
rs60274646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61015726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61485586	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005478	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007757	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007758	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007761	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007763	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009403	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9917800	0.88[AFR][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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1799287	chr3:150125721-150147118	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150125000-150137400	Active TSS	GM12878-XiMat	blood
2	chr3:150131000-150136000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:150131000-150138600	Weak transcription	Lung	lung
4	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:150131200-150138600	Enhancers	Colon Smooth Muscle	Colon
7	chr3:150131400-150138600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:150131800-150136000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:150132000-150136200	Transcr. at gene 5' and 3'	K562	blood
10	chr3:150132200-150136000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr3:150132200-150136400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:150132200-150140600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:150132400-150139200	Weak transcription	Fetal Stomach	stomach
14	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
19	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
21	chr3:150132600-150136200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:150132600-150136400	Genic enhancers	A549	lung
23	chr3:150132600-150137800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:150132600-150145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:150132800-150136600	Enhancers	Brain Angular Gyrus	brain
26	chr3:150132800-150138200	Enhancers	Brain Substantia Nigra	brain
27	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:150133000-150136000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:150133000-150136400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr3:150133000-150136400	Genic enhancers	Fetal Lung	lung
33	chr3:150133000-150139800	Weak transcription	Fetal Kidney	kidney
34	chr3:150133400-150136200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:150133400-150136200	Genic enhancers	NHEK	skin
36	chr3:150133400-150136600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:150133400-150137400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:150133400-150137600	Genic enhancers	HSMM	muscle
39	chr3:150133600-150136800	Weak transcription	HSMMtube	muscle
40	chr3:150133600-150139600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:150133600-150139800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:150133600-150151000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
45	chr3:150133800-150136000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
46	chr3:150133800-150136200	Enhancers	Fetal Brain Female	brain
47	chr3:150133800-150136800	Weak transcription	Fetal Intestine Large	intestine
48	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:150134000-150136400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:150134000-150136800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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