Variant report

Variant	rs67073112
Chromosome Location	chr3:150137844-150137845
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150135087-150138468	K562	blood:	n/a	n/a
2	ESR1	chr3:150137792-150138090	ECC-1	luminal epithelium:	n/a	n/a
3	GATA3	chr3:150137805-150138082	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:150086902..150089689-chr3:150137707..150139758,2	MCF-7	breast:
2	chr3:150134899..150136679-chr3:150137562..150139549,2	MCF-7	breast:
3	chr3:150091318..150093525-chr3:150137664..150139823,2	K562	blood:
4	chr3:150088147..150089862-chr3:150135989..150138013,2	MCF-7	breast:

No data

Variant related genes	Relation type
TSC22D2	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10513368	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513369	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513370	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513371	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513372	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11713072	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714034	0.94[EUR][1000 genomes]
rs11714123	0.94[EUR][1000 genomes]
rs11925759	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11928577	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11928948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13066114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067910	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13068946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13073230	0.96[ASN][1000 genomes]
rs13076419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13089766	0.87[EUR][1000 genomes]
rs13317818	0.93[ASN][1000 genomes]
rs1376027	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17278131	0.89[ASN][1000 genomes]
rs28571974	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28587291	0.93[ASN][1000 genomes]
rs2868430	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34106738	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34156311	0.96[ASN][1000 genomes]
rs34419133	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34503712	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34647320	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34983941	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35019980	0.87[EUR][1000 genomes]
rs35234277	0.86[ASN][1000 genomes]
rs35598887	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3749400	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811719	0.93[ASN][1000 genomes]
rs61734437	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66816665	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67100311	0.87[EUR][1000 genomes]
rs6791546	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799106	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799981	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73165716	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73167540	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7614772	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618493	0.93[ASN][1000 genomes]
rs7620193	0.93[ASN][1000 genomes]
rs7621019	0.93[ASN][1000 genomes]
rs7623100	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9827736	0.86[ASN][1000 genomes]
rs9844735	0.93[ASN][1000 genomes]
rs9875752	0.93[ASN][1000 genomes]
rs9879140	0.93[ASN][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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150131000-150138600	Weak transcription	Lung	lung
2	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:150131200-150138600	Enhancers	Colon Smooth Muscle	Colon
5	chr3:150131400-150138600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:150132200-150140600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:150132400-150139200	Weak transcription	Fetal Stomach	stomach
8	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
13	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
15	chr3:150132600-150145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:150132800-150138200	Enhancers	Brain Substantia Nigra	brain
17	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:150133000-150139800	Weak transcription	Fetal Kidney	kidney
21	chr3:150133600-150139600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:150133600-150139800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:150133600-150151000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
26	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:150134000-150138600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:150134000-150143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:150134000-150143800	Weak transcription	Aorta	Aorta
30	chr3:150134000-150146000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:150134000-150147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:150134000-150159200	Weak transcription	Thymus	Thymus
33	chr3:150134200-150139200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:150134200-150140800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:150134400-150138600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:150134400-150139200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:150134600-150146000	Weak transcription	Stomach Mucosa	stomach
38	chr3:150134600-150174800	Weak transcription	Dnd41	blood
39	chr3:150134800-150139800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr3:150135000-150139200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:150135200-150138000	Enhancers	Small Intestine	intestine
43	chr3:150135200-150138200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:150135200-150138400	Enhancers	Liver	Liver
45	chr3:150135400-150138000	Enhancers	Adipose Nuclei	Adipose
46	chr3:150135400-150138000	Enhancers	Rectal Smooth Muscle	rectum
47	chr3:150135600-150145600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:150135800-150138000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr3:150135800-150138000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:150135800-150138200	Enhancers	Primary T helper cells PMA-I stimulated	--

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