Variant report

Variant	rs7793278
Chromosome Location	chr7:8013087-8013088
allele	G/T
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	GATA3	chr7:8013018-8013267	SH-SY5Y	brain:	n/a	chr7:8013179-8013195 chr7:8013181-8013188
2	BHLHE40	chr7:8012948-8013206	GM12878	blood:	n/a	n/a
3	MXI1	chr7:8006814-8014285	SK-N-SH	brain:	n/a	n/a
4	CHD1	chr7:8007292-8013431	GM12878	blood:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
5	SIN3A	chr7:8012692-8013116	GM12878	blood:	n/a	n/a
6	POU2F2	chr7:8012812-8013240	GM12878	blood:	n/a	chr7:8013026-8013035 chr7:8013027-8013034 chr7:8013026-8013036 chr7:8013026-8013036
7	EBF1	chr7:8013086-8013090	GM12878	blood:	n/a	n/a
8	BCLAF1	chr7:8012430-8013248	GM12878	blood:	n/a	n/a
9	RFX5	chr7:8012627-8013261	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:8006998-8013228	GM12878	blood:	n/a	n/a
11	TBL1XR1	chr7:8012586-8013154	GM12878	blood:	n/a	n/a
12	POU2F2	chr7:8012857-8013202	GM12878	blood:	n/a	chr7:8013026-8013035 chr7:8013027-8013034 chr7:8013026-8013036 chr7:8013026-8013036
13	POU2F2	chr7:8012956-8013115	GM12878	blood:	n/a	chr7:8013026-8013035 chr7:8013027-8013034 chr7:8013026-8013036 chr7:8013026-8013036

No.	Distal block	Cell Line	Cell type
1	chr7:7951350..7953467-chr7:8011566..8014289,2	MCF-7	breast:
2	chr7:7799170..7801738-chr7:8011527..8014249,3	MCF-7	breast:
3	chr7:8012721..8014587-chr7:8046373..8049068,2	MCF-7	breast:
4	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
5	chr7:8012321..8014472-chr7:8092130..8094206,2	MCF-7	breast:
6	chr7:7959000..7960788-chr7:8011254..8013968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	TF binding region
ENSG00000233264	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12113109	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12702689	0.85[EUR][1000 genomes]
rs13222718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13225545	0.91[EUR][1000 genomes]
rs34059590	0.91[EUR][1000 genomes]
rs34156160	0.87[EUR][1000 genomes]
rs34438930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34746652	0.91[EUR][1000 genomes]
rs35009545	0.89[EUR][1000 genomes]
rs35143180	0.91[EUR][1000 genomes]
rs35146192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35149843	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35425218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35509690	0.94[EUR][1000 genomes]
rs35567393	0.89[EUR][1000 genomes]
rs35641104	0.85[EUR][1000 genomes]
rs58769447	0.99[ASN][1000 genomes]
rs715377	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8007200-8013400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:8008200-8013400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:8009800-8014800	Active TSS	Brain Germinal Matrix	brain
4	chr7:8010000-8016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:8010000-8016200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:8010200-8013400	Flanking Active TSS	Dnd41	blood
7	chr7:8010400-8015600	Weak transcription	Small Intestine	intestine
8	chr7:8010400-8016200	Weak transcription	Left Ventricle	heart
9	chr7:8010600-8014000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:8010800-8013200	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:8010800-8013400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:8010800-8023600	Weak transcription	Psoas Muscle	Psoas
13	chr7:8011000-8016800	Weak transcription	Osteobl	bone
14	chr7:8011200-8013400	Active TSS	Stomach Smooth Muscle	stomach
15	chr7:8011200-8013800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:8011400-8023600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:8011800-8013800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr7:8012000-8013200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:8012000-8013200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:8012000-8013200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:8012000-8013200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:8012000-8014400	Enhancers	Primary B cells from cord blood	blood
23	chr7:8012000-8014600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:8012000-8015800	Weak transcription	Spleen	Spleen
25	chr7:8012000-8016200	Weak transcription	Fetal Stomach	stomach
26	chr7:8012000-8017400	Weak transcription	Placenta	Placenta
27	chr7:8012000-8017400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:8012000-8017400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:8012000-8017600	Weak transcription	Aorta	Aorta
30	chr7:8012000-8018600	Weak transcription	Adipose Nuclei	Adipose
31	chr7:8012000-8018800	Weak transcription	Fetal Lung	lung
32	chr7:8012000-8020000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:8012200-8013200	Enhancers	Fetal Brain Male	brain
34	chr7:8012200-8013200	Enhancers	NH-A	brain
35	chr7:8012200-8013400	Enhancers	Brain Hippocampus Middle	brain
36	chr7:8012200-8013600	Enhancers	Primary T cells from cord blood	blood
37	chr7:8012200-8013600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:8012200-8014200	Enhancers	Hela-S3	cervix
39	chr7:8012200-8014800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:8012200-8015400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:8012200-8017000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:8012200-8017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:8012200-8017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:8012200-8018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:8012200-8018000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:8012200-8018400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:8012200-8020600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:8012400-8013400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:8012400-8013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:8012400-8018200	Enhancers	Primary T helper cells fromperipheralblood	blood

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