Variant report

Variant	rs56695509
Chromosome Location	chr7:99684494-99684495
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	GATA3	chr7:99684446-99685307	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr7:99684470-99685305	SK-N-SH	brain:	n/a	n/a
3	RCOR1	chr7:99684113-99685360	IMR90	lung:	n/a	n/a
4	TCF12	chr7:99684452-99685390	SK-N-SH	brain:	n/a	n/a
5	SIN3AK20	chr7:99684438-99685224	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr7:99684468-99685306	SK-N-SH	brain:	n/a	n/a
7	JUND	chr7:99684457-99685373	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr7:99684420-99685205	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:99684445-99685272	HUVEC	blood vessel:	n/a	n/a
10	JUND	chr7:99684454-99692172	SK-N-SH	brain:	n/a	chr7:99689164-99689173 chr7:99689152-99689166 chr7:99686473-99686482 chr7:99687700-99687711 chr7:99690760-99690769
11	POLR2A	chr7:99684474-99685286	HUVEC	blood vessel:	n/a	n/a
12	TCF12	chr7:99684282-99685314	SK-N-SH	brain:	n/a	n/a
13	MAX	chr7:99684491-99685272	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr7:99684444-99685313	SK-N-SH	brain:	n/a	n/a
15	EP300	chr7:99684384-99685264	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr7:99684468-99685301	SK-N-SH	brain:	n/a	n/a
17	JUND	chr7:99684463-99685289	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ZNF3	TF binding region
COPS6	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4134907	1.00[AMR][1000 genomes]
rs4134908	1.00[AMR][1000 genomes]
rs4134921	1.00[AMR][1000 genomes]
rs59991229	1.00[AMR][1000 genomes]
rs60551236	1.00[AMR][1000 genomes]
rs60594059	1.00[AMR][1000 genomes]
rs73395916	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395928	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395975	1.00[AMR][1000 genomes]
rs73395997	1.00[AMR][1000 genomes]
rs73397503	1.00[AMR][1000 genomes]
rs73411443	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	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
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 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	chr7:99679400-99684600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:99679400-99686000	Weak transcription	Gastric	stomach
3	chr7:99679400-99686000	Weak transcription	Small Intestine	intestine
4	chr7:99680000-99684600	Weak transcription	A549	lung
5	chr7:99680000-99684800	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:99680200-99685800	Weak transcription	Right Atrium	heart
7	chr7:99680400-99684600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:99680400-99685000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:99680400-99685600	Weak transcription	Dnd41	blood
10	chr7:99680600-99684600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:99680600-99684600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:99680600-99684600	Weak transcription	Hela-S3	cervix
13	chr7:99680600-99685000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:99680600-99685600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:99680600-99685600	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:99680600-99685600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:99680600-99685600	Weak transcription	Spleen	Spleen
18	chr7:99680600-99686000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:99680600-99686000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:99680600-99686000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:99680600-99686000	Weak transcription	Left Ventricle	heart
22	chr7:99680600-99686000	Weak transcription	Pancreas	Pancrea
23	chr7:99680800-99684600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:99680800-99684600	Weak transcription	NH-A	brain
25	chr7:99680800-99685400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:99680800-99685400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:99680800-99685600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:99680800-99685600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:99680800-99685600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:99680800-99685600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:99680800-99685600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:99680800-99685600	Weak transcription	Fetal Intestine Large	intestine
33	chr7:99680800-99685600	Weak transcription	Fetal Intestine Small	intestine
34	chr7:99680800-99685600	Weak transcription	Fetal Kidney	kidney
35	chr7:99680800-99685600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:99680800-99685600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:99680800-99685600	Weak transcription	GM12878-XiMat	blood
38	chr7:99680800-99685600	Weak transcription	HepG2	liver
39	chr7:99680800-99685800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:99680800-99685800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:99680800-99685800	Weak transcription	Fetal Heart	heart
42	chr7:99680800-99685800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:99680800-99685800	Weak transcription	Stomach Mucosa	stomach
44	chr7:99680800-99686000	Weak transcription	Adipose Nuclei	Adipose
45	chr7:99680800-99686000	Weak transcription	Liver	Liver
46	chr7:99680800-99686000	Weak transcription	Brain Angular Gyrus	brain
47	chr7:99680800-99686000	Weak transcription	Right Ventricle	heart
48	chr7:99680800-99686200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:99681000-99685600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:99681000-99685600	Weak transcription	Primary B cells from cord blood	blood

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