Variant report

Variant	rs11204757
Chromosome Location	chr1:150983812-150983813
allele	C/G
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	FOS	chr1:150983709-150984002	MCF10A-Er-Src	breast:	n/a	chr1:150983836-150983845 chr1:150983836-150983846 chr1:150983837-150983846
2	JUND	chr1:150983688-150984015	HepG2	liver:	n/a	chr1:150983836-150983845 chr1:150983836-150983846 chr1:150983837-150983846 chr1:150983835-150983846
3	JUND	chr1:150983758-150983946	K562	blood:	n/a	chr1:150983836-150983845 chr1:150983836-150983846 chr1:150983837-150983846 chr1:150983835-150983846
4	FOS	chr1:150983730-150983947	MCF10A-Er-Src	breast:	n/a	chr1:150983836-150983845 chr1:150983836-150983846 chr1:150983837-150983846
5	FOS	chr1:150983744-150984014	MCF10A-Er-Src	breast:	n/a	chr1:150983836-150983845 chr1:150983836-150983846 chr1:150983837-150983846
6	JUN	chr1:150983682-150983906	HepG2	liver:	n/a	chr1:150983836-150983845 chr1:150983836-150983846 chr1:150983837-150983846

No.	Distal block	Cell Line	Cell type
1	chr1:150980774..150986118-chr1:151028117..151032528,6	MCF-7	breast:
2	chr1:150983476..150986465-chr1:151136618..151138245,2	MCF-7	breast:
3	chr1:150983756..150986937-chr1:151021073..151026316,5	K562	blood:
4	chr1:150959117..150961837-chr1:150983073..150984965,2	MCF-7	breast:
5	chr1:150979291..150984938-chr1:151030285..151033653,10	K562	blood:
6	chr1:150981570..150984022-chr1:151030285..151033329,3	K562	blood:
7	chr1:150981060..150985373-chr1:151041559..151045283,5	MCF-7	breast:
8	chr1:150983123..150985410-chr1:151041605..151044265,2	K562	blood:
9	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
10	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:
11	chr1:150979769..150983967-chr1:151018069..151024059,8	MCF-7	breast:
12	chr1:150982171..150983870-chr1:151041537..151043807,2	K562	blood:

Variant related genes	Relation type
FAM63A	TF binding region
ENSG00000213190	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000197622	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11204761	1.00[CEU][hapmap]
rs11799964	1.00[CEU][hapmap]
rs11799977	1.00[CEU][hapmap]
rs11803792	1.00[CEU][hapmap]
rs12063995	1.00[CEU][hapmap]
rs12094892	1.00[CEU][hapmap]
rs1534059	1.00[CEU][hapmap]

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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150981800-150984200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:150981800-150985400	Weak transcription	Ovary	ovary
3	chr1:150981800-150997000	Weak transcription	Aorta	Aorta
4	chr1:150981800-151006400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:150982000-150984000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:150982000-150984200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:150982000-150984200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:150982000-150984600	Enhancers	Liver	Liver
9	chr1:150982000-150984800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:150982000-150985000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:150982000-150985400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:150982000-150985400	Weak transcription	Gastric	stomach
13	chr1:150982000-150985400	Weak transcription	Pancreas	Pancrea
14	chr1:150982000-150985400	Weak transcription	Right Ventricle	heart
15	chr1:150982000-150985600	Weak transcription	Colonic Mucosa	Colon
16	chr1:150982000-150985600	Weak transcription	Lung	lung
17	chr1:150982000-150985800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:150982000-150985800	Weak transcription	Fetal Brain Male	brain
19	chr1:150982000-150985800	Enhancers	Fetal Heart	heart
20	chr1:150982000-150985800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:150982000-150986600	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:150982000-150987200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:150982000-150990200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:150982000-150990400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:150982000-150990400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:150982000-150996800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:150982000-150997000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:150982000-150997000	Weak transcription	Esophagus	oesophagus
29	chr1:150982000-150997000	Weak transcription	Psoas Muscle	Psoas
30	chr1:150982000-150998000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:150982000-150999600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:150982000-151009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:150982200-150984000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:150982200-150984000	Enhancers	Brain Angular Gyrus	brain
35	chr1:150982200-150984000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:150982200-150984200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr1:150982200-150984200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:150982200-150984200	Enhancers	Brain Germinal Matrix	brain
39	chr1:150982200-150984200	Enhancers	A549	lung
40	chr1:150982200-150985000	Weak transcription	Primary B cells from cord blood	blood
41	chr1:150982200-150985200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:150982200-150985200	Enhancers	HepG2	liver
43	chr1:150982200-150985400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:150982200-150985400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:150982200-150985400	Weak transcription	Placenta	Placenta
46	chr1:150982200-150985600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:150982200-150985600	Weak transcription	Small Intestine	intestine
48	chr1:150982200-150985600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:150982200-150987600	Enhancers	Fetal Intestine Large	intestine
50	chr1:150982200-150990400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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