Variant report

Variant	rs10279801
Chromosome Location	chr7:99844413-99844414
allele	A/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	CEBPB	chr7:99843901-99845416	Hela-S3	cervix:	n/a	n/a
2	TCF12	chr7:99843771-99845544	A549	lung:	n/a	chr7:99844238-99844246
3	CEBPB	chr7:99844401-99844593	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:99844404-99844697	A549	lung:	n/a	n/a
5	NR3C1	chr7:99843937-99844481	A549	lung:	n/a	chr7:99844372-99844385
6	POLR2A	chr7:99843748-99844551	Hela-S3	cervix:	n/a	n/a
7	NR3C1	chr7:99843887-99844539	A549	lung:	n/a	chr7:99844372-99844385
8	SP1	chr7:99843860-99844587	A549	lung:	n/a	n/a
9	TCF7L2	chr7:99843908-99844531	Hela-S3	cervix:	n/a	n/a
10	SP1	chr7:99843852-99845541	A549	lung:	n/a	n/a
11	NR3C1	chr7:99843991-99844458	A549	lung:	n/a	chr7:99844372-99844385
12	NR3C1	chr7:99843828-99844646	A549	lung:	n/a	chr7:99844372-99844385
13	SIX5	chr7:99844061-99845521	A549	lung:	n/a	n/a
14	POLR2A	chr7:99844042-99844444	A549	lung:	n/a	n/a
15	CEBPB	chr7:99844345-99844689	K562	blood:	n/a	n/a
16	EP300	chr7:99843843-99844539	A549	lung:	n/a	n/a
17	TFAP2C	chr7:99843816-99844427	Hela-S3	cervix:	n/a	n/a
18	RFX5	chr7:99843909-99844421	Hela-S3	cervix:	n/a	n/a
19	GTF3C2	chr7:99844332-99844878	Hela-S3	cervix:	n/a	n/a
20	MAX	chr7:99843870-99844522	Hela-S3	cervix:	n/a	n/a
21	JUND	chr7:99843917-99844533	Hela-S3	cervix:	n/a	chr7:99843944-99843955

Variant related genes	Relation type
ENSG00000239521	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10229068	1.00[AFR][1000 genomes]
rs10260650	1.00[AFR][1000 genomes]
rs10261511	1.00[AFR][1000 genomes]
rs10267127	1.00[AFR][1000 genomes]
rs28411964	1.00[AFR][1000 genomes]
rs28444266	1.00[AFR][1000 genomes]
rs28773584	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv981558	chr7:99836239-99870051	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
2	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
3	chr7:99813800-99846800	Weak transcription	Ovary	ovary
4	chr7:99815600-99844800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:99821600-99867800	Weak transcription	Gastric	stomach
6	chr7:99823200-99862600	Weak transcription	Spleen	Spleen
7	chr7:99823800-99864200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:99829200-99860600	Weak transcription	Dnd41	blood
9	chr7:99829600-99844800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:99831000-99845200	Weak transcription	Right Ventricle	heart
11	chr7:99831400-99864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:99831600-99846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:99831800-99853000	Weak transcription	Fetal Brain Female	brain
14	chr7:99832000-99844800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:99832200-99846000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:99833000-99868600	Weak transcription	Primary T cells from cord blood	blood
17	chr7:99833200-99868600	Weak transcription	Thymus	Thymus
18	chr7:99835400-99844800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:99837600-99844800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:99838200-99845000	Weak transcription	Fetal Stomach	stomach
21	chr7:99838800-99845800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:99839600-99844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:99839600-99844800	Weak transcription	Pancreas	Pancrea
24	chr7:99840000-99846000	Weak transcription	Brain Germinal Matrix	brain
25	chr7:99840200-99845200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:99840200-99863600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:99840600-99844800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:99840600-99845000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:99841200-99846400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:99841400-99845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:99841400-99847000	Enhancers	Fetal Muscle Leg	muscle
32	chr7:99841400-99864000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:99841600-99845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:99841600-99846000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:99841800-99844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:99841800-99845800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:99842000-99844600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:99842000-99844800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:99842000-99845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:99842000-99868400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:99842200-99845600	Weak transcription	Fetal Thymus	thymus
42	chr7:99842600-99846400	Enhancers	Placenta	Placenta
43	chr7:99842800-99844800	Weak transcription	Brain Angular Gyrus	brain
44	chr7:99842800-99844800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:99842800-99846400	Enhancers	Fetal Muscle Trunk	muscle
46	chr7:99842800-99858200	Weak transcription	Brain Substantia Nigra	brain
47	chr7:99843000-99845000	Weak transcription	Left Ventricle	heart
48	chr7:99843200-99844800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:99843200-99844800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:99843200-99844800	Weak transcription	Brain Hippocampus Middle	brain

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