Variant report

Variant	rs7936659
Chromosome Location	chr11:102319900-102319901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:102319594-102320010	T-47D	breast:	n/a	n/a
2	RFX5	chr11:102319707-102319905	K562	blood:	n/a	n/a
3	GATA3	chr11:102319556-102320032	T-47D	breast:	n/a	n/a
4	POLR2A	chr11:102319537-102320100	HL-60	blood:	n/a	n/a
5	WRNIP1	chr11:102319792-102320031	GM12878	blood:	n/a	n/a
6	FOXA1	chr11:102319499-102320029	HepG2	liver:	n/a	n/a
7	MYC	chr11:102319326-102319979	NB4	blood:	n/a	n/a
8	ZNF143	chr11:102319886-102319902	K562	blood:	n/a	n/a
9	FOXA1	chr11:102319519-102319975	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:102319559-102320043	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:102319403-102320083	HL-60	blood:	n/a	n/a
12	FOXA2	chr11:102319650-102319938	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:102318611-102319913	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:102319324-102319995	GM12878	blood:	n/a	n/a
15	BHLHE40	chr11:102319897-102319911	K562	blood:	n/a	n/a
16	GATA2	chr11:102319766-102320024	SH-SY5Y	brain:	n/a	n/a
17	POLR2A	chr11:102318493-102320049	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
2	chr11:102301204..102303271-chr11:102318282..102320152,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255337	TF binding region
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12272097	0.85[AFR][1000 genomes]
rs12273573	1.00[AMR][1000 genomes]
rs12276134	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280598	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944904	0.87[AFR][1000 genomes];1.00[AMR][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	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102300800-102320600	Weak transcription	Ovary	ovary
2	chr11:102301200-102320800	Weak transcription	Left Ventricle	heart
3	chr11:102301400-102320600	Weak transcription	Right Ventricle	heart
4	chr11:102301400-102320800	Weak transcription	Adipose Nuclei	Adipose
5	chr11:102301400-102321000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:102301400-102322400	Weak transcription	Spleen	Spleen
7	chr11:102304000-102320600	Weak transcription	Fetal Brain Female	brain
8	chr11:102304000-102322400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:102304200-102322000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:102306800-102320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:102309600-102320400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:102309600-102322400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:102309800-102320400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:102309800-102320600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:102309800-102322400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:102310000-102321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:102310200-102322400	Weak transcription	Lung	lung
18	chr11:102314400-102320800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:102314800-102320800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:102315600-102320600	Weak transcription	Psoas Muscle	Psoas
21	chr11:102316000-102320200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:102316600-102320200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:102316600-102320600	Genic enhancers	HSMM	muscle
24	chr11:102316800-102320400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:102316800-102322000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:102317400-102320400	Weak transcription	Fetal Lung	lung
27	chr11:102317800-102320000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:102317800-102320600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:102318000-102320400	Enhancers	Brain Hippocampus Middle	brain
30	chr11:102318000-102322000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:102318200-102320400	Weak transcription	Fetal Brain Male	brain
32	chr11:102318200-102320400	Weak transcription	HSMMtube	muscle
33	chr11:102318200-102320600	Weak transcription	NH-A	brain
34	chr11:102318200-102320800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:102318200-102321000	Weak transcription	NHDF-Ad	bronchial
36	chr11:102318200-102321400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:102318200-102321600	Weak transcription	Osteobl	bone
38	chr11:102318400-102320400	Enhancers	Colon Smooth Muscle	Colon
39	chr11:102318400-102320600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:102318400-102320600	Enhancers	Brain Anterior Caudate	brain
41	chr11:102318400-102320600	Enhancers	Brain Substantia Nigra	brain
42	chr11:102318400-102321000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:102318600-102320400	Enhancers	Brain Cingulate Gyrus	brain
44	chr11:102318800-102321400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:102319000-102320400	Enhancers	Brain Angular Gyrus	brain
46	chr11:102319000-102320400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:102319000-102320400	Enhancers	A549	lung
48	chr11:102319000-102321400	Enhancers	Fetal Intestine Small	intestine
49	chr11:102319000-102322000	Enhancers	Stomach Mucosa	stomach
50	chr11:102319000-102322400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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