Variant report

Variant	rs6791546
Chromosome Location	chr3:150133977-150133978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150133493..150135633-chr3:150263328..150264884,2	MCF-7	breast:
2	chr3:150100256..150103024-chr3:150133786..150136650,2	K562	blood:
3	chr3:149955070..149958943-chr3:150133193..150137279,5	MCF-7	breast:
4	chr3:150133801..150136735-chr3:150211220..150213846,2	MCF-7	breast:
5	chr3:150132083..150135574-chr3:150261466..150265454,4	K562	blood:
6	chr3:150130662..150134020-chr3:150134493..150137721,4	MCF-7	breast:
7	chr3:150131692..150134159-chr3:150200566..150202445,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144895	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000244541	Chromatin interaction

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

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

rs_ID	r²[population]
rs10513368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513370	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513372	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513375	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11713072	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714034	0.94[EUR][1000 genomes]
rs11714123	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs11925759	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11928577	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11928948	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13066114	0.87[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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13073230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13076419	0.85[CEU][hapmap];0.87[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17278131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28571974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28587291	0.93[ASN][1000 genomes]
rs2868430	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34106738	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34156311	0.96[ASN][1000 genomes]
rs34419133	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34503712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34647320	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34983941	0.83[AFR][1000 genomes];0.95[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	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3749400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67073112	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67100311	0.87[EUR][1000 genomes]
rs6799106	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73165716	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73167540	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7614772	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618493	0.93[ASN][1000 genomes]
rs7620193	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7621019	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7623100	0.98[AFR][1000 genomes];1.00[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:114 , 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	chr3:150129400-150134400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:150130600-150134000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr3:150131000-150136000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:150131000-150138600	Weak transcription	Lung	lung
6	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:150131200-150135200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:150131200-150138600	Enhancers	Colon Smooth Muscle	Colon
10	chr3:150131400-150138600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:150131800-150134000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
12	chr3:150131800-150136000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr3:150132000-150134000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:150132000-150134200	Transcr. at gene 5' and 3'	Osteobl	bone
15	chr3:150132000-150136200	Transcr. at gene 5' and 3'	K562	blood
16	chr3:150132200-150134200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:150132200-150136000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr3:150132200-150136400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr3:150132200-150140600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:150132400-150134000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:150132400-150134000	Genic enhancers	Hela-S3	cervix
22	chr3:150132400-150134600	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:150132400-150135000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:150132400-150135800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:150132400-150135800	Weak transcription	Ovary	ovary
26	chr3:150132400-150139200	Weak transcription	Fetal Stomach	stomach
27	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
32	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
34	chr3:150132600-150134000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:150132600-150134600	Enhancers	Stomach Mucosa	stomach
36	chr3:150132600-150134800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr3:150132600-150136200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:150132600-150136400	Genic enhancers	A549	lung
39	chr3:150132600-150137800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr3:150132600-150145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:150132800-150134000	Enhancers	Fetal Brain Male	brain
42	chr3:150132800-150134200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr3:150132800-150134200	Enhancers	HepG2	liver
44	chr3:150132800-150134800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr3:150132800-150135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:150132800-150136600	Enhancers	Brain Angular Gyrus	brain
47	chr3:150132800-150138200	Enhancers	Brain Substantia Nigra	brain
48	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum

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