Variant report

Variant	rs7950829
Chromosome Location	chr11:10563273-10563274
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	CTCF	chr11:10563140-10563290	AG09319	gingival:	n/a	n/a
2	GATA2	chr11:10562269-10563496	SH-SY5Y	brain:	n/a	n/a
3	MAX	chr11:10562696-10563331	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr11:10562057-10563285	A549	lung:	n/a	n/a
5	MXI1	chr11:10561562-10563951	IMR90	lung:	n/a	n/a
6	KAP1	chr11:10562593-10563416	U2OS	brain:	n/a	chr11:10562594-10562602
7	HCFC1	chr11:10562070-10563280	K562	blood:	n/a	n/a
8	CEBPB	chr11:10562628-10563304	HepG2	liver:	n/a	chr11:10563153-10563170
9	MYC	chr11:10563268-10563466	MCF10A-Er-Src	breast:	n/a	n/a
10	MXI1	chr11:10562138-10563282	GM12878	blood:	n/a	n/a
11	REST	chr11:10561831-10563363	H1-neurons	neurons:	n/a	chr11:10562649-10562669 chr11:10562648-10562657
12	MXI1	chr11:10561651-10564161	SK-N-SH	brain:	n/a	n/a
13	MYC	chr11:10562196-10563315	K562	blood:	n/a	n/a
14	CTCF	chr11:10563200-10563350	HL-60	blood:	n/a	n/a
15	CTCF	chr11:10561826-10563494	SK-N-SH	brain:	n/a	n/a
16	EP300	chr11:10563158-10563429	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr11:10563180-10563330	AG04450	lung:	n/a	n/a
18	MAX	chr11:10562337-10563366	NB4	blood:	n/a	n/a
19	SP1	chr11:10562306-10563453	HCT-116	colon:	n/a	chr11:10562505-10562515 chr11:10562786-10562795 chr11:10562785-10562797 chr11:10562786-10562800 chr11:10562786-10562796 chr11:10562785-10562796 chr11:10562786-10562795 chr11:10562785-10562797 chr11:10562690-10562703 chr11:10562787-10562796 chr11:10562786-10562796
20	KAP1	chr11:10562528-10563857	HEK293	kidney:	n/a	chr11:10562594-10562602
21	CTCF	chr11:10561919-10563572	A549	lung:	n/a	n/a
22	MYC	chr11:10561700-10563434	MCF10A-Er-Src	breast:	n/a	n/a
23	HCFC1	chr11:10561249-10564110	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr11:10562509-10563317	GM12878	blood:	n/a	n/a
25	UBTF	chr11:10561969-10563302	K562	blood:	n/a	n/a
26	MYC	chr11:10562166-10563339	K562	blood:	n/a	n/a
27	CTCF	chr11:10563160-10563310	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10476884..10479039-chr11:10561132..10563728,3	K562	blood:
2	chr11:10560102..10563921-chr11:10672313..10677222,4	MCF-7	breast:
3	chr11:10471184..10472852-chr11:10561290..10564176,2	K562	blood:

Variant related genes	Relation type
RNF141	TF binding region
ENSG00000072952	Chromatin interaction
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1346022	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1364738	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364739	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462940	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908001	1.00[ASN][1000 genomes]
rs17318955	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403439	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403460	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403795	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403942	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403977	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4025	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41464450	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4910160	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910161	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7949992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952446	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10561200-10563400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:10561400-10563400	Active TSS	Stomach Smooth Muscle	stomach
3	chr11:10561400-10563400	Active TSS	NHLF	lung
4	chr11:10561600-10563400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:10561600-10563400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:10561600-10563400	Active TSS	Esophagus	oesophagus
7	chr11:10561800-10563400	Active TSS	Brain Angular Gyrus	brain
8	chr11:10562000-10563400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:10562000-10563400	Active TSS	Brain Anterior Caudate	brain
10	chr11:10562000-10563400	Active TSS	Fetal Brain Male	brain
11	chr11:10562000-10563400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:10562000-10563600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:10562200-10563400	Active TSS	Primary T cells from cord blood	blood
14	chr11:10562200-10563400	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr11:10562200-10563400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:10562800-10563400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:10562800-10563400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr11:10562800-10563400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:10562800-10563400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:10562800-10563400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:10562800-10563400	Flanking Active TSS	Dnd41	blood
22	chr11:10562800-10563400	Flanking Active TSS	HMEC	breast
23	chr11:10562800-10563400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr11:10562800-10563800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr11:10563000-10563400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr11:10563000-10563400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:10563000-10563400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:10563000-10563400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr11:10563000-10563400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:10563000-10563400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr11:10563000-10563400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:10563000-10563400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:10563000-10563400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:10563000-10563400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr11:10563000-10563400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr11:10563000-10563400	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr11:10563000-10563400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr11:10563000-10563400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr11:10563000-10563400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr11:10563000-10563400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr11:10563000-10563400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:10563000-10563400	Flanking Active TSS	Hela-S3	cervix
43	chr11:10563000-10563400	Flanking Active TSS	HepG2	liver
44	chr11:10563000-10563400	Flanking Active TSS	K562	blood
45	chr11:10563000-10563400	Flanking Active TSS	Osteobl	bone
46	chr11:10563000-10563600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:10563000-10563600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr11:10563000-10563600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr11:10563000-10563600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:10563000-10563600	Flanking Active TSS	NHEK	skin

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