Variant report

Variant	rs56203514
Chromosome Location	chr3:150140556-150140557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150139451-150140675	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:150138843-150141888	K562	blood:	n/a	n/a
3	POLR2A	chr3:150138944-150140674	K562	blood:	n/a	n/a
4	STAT3	chr3:150140210-150140565	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:150139285-150140578	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150069354..150071099-chr3:150138722..150140607,2	K562	blood:
2	chr3:150138598..150140801-chr3:150147562..150149502,2	MCF-7	breast:
3	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
4	chr3:150138486..150140659-chr3:150145400..150147517,2	MCF-7	breast:

No data

Variant related genes	Relation type
TSC22D2	TF binding region
ENSG00000196428	Chromatin interaction

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

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

rs_ID	r²[population]
rs55857164	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56782857	0.81[AFR][1000 genomes]
rs58143991	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59185841	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59653532	1.00[AMR][1000 genomes]
rs60274646	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61015726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61485586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999319	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869233	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9917800	0.95[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:150132200-150140600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
9	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
11	chr3:150132600-150145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:150133600-150151000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
18	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:150134000-150143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:150134000-150143800	Weak transcription	Aorta	Aorta
21	chr3:150134000-150146000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:150134000-150147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:150134000-150159200	Weak transcription	Thymus	Thymus
24	chr3:150134200-150140800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:150134600-150146000	Weak transcription	Stomach Mucosa	stomach
26	chr3:150134600-150174800	Weak transcription	Dnd41	blood
27	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:150135600-150145600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:150136000-150140800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:150136000-150144000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:150136000-150145800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:150136000-150160800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:150136200-150140600	Weak transcription	Fetal Brain Female	brain
34	chr3:150136200-150142400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:150136200-150146000	Weak transcription	Psoas Muscle	Psoas
36	chr3:150136200-150160000	Weak transcription	Fetal Brain Male	brain
37	chr3:150136400-150142000	Enhancers	Fetal Lung	lung
38	chr3:150136400-150142400	Weak transcription	Fetal Thymus	thymus
39	chr3:150136400-150148000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr3:150136600-150140800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:150136600-150144000	Weak transcription	Primary B cells from cord blood	blood
42	chr3:150137000-150141800	Enhancers	Brain Germinal Matrix	brain
43	chr3:150137200-150176200	Weak transcription	HepG2	liver
44	chr3:150137600-150148000	Weak transcription	Hela-S3	cervix
45	chr3:150137800-150141000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:150137800-150142000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr3:150138000-150151200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:150138000-150151200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:150138000-150159400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:150138200-150143800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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