Variant report

Variant	rs73053563
Chromosome Location	chr7:8108589-8108590
allele	C/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	POLR2A	chr7:8108252-8108700	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
GLCCI1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11972865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17508185	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17566854	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34001876	1.00[AFR][1000 genomes]
rs55746128	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55832940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017154	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56073406	0.80[EUR][1000 genomes]
rs56142807	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56195338	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975218	0.84[EUR][1000 genomes]
rs73049231	0.83[AMR][1000 genomes]
rs73049238	0.83[AMR][1000 genomes]
rs73049252	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73049256	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73049270	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73049276	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73049290	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73049293	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73049297	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73049300	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73050915	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73050929	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73050940	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73050951	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73050956	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73050958	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73050959	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73053544	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73053556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73053562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804306	0.81[EUR][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	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
2	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
3	nsv519058	chr7:8094604-8115794	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv1009766	chr7:8106112-8134286	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:8066800-8108600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
6	chr7:8075000-8108600	Weak transcription	Psoas Muscle	Psoas
7	chr7:8075000-8125800	Weak transcription	Lung	lung
8	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:8076000-8111800	Weak transcription	Fetal Brain Male	brain
12	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
13	chr7:8085200-8109000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:8085200-8128400	Weak transcription	Small Intestine	intestine
15	chr7:8088600-8108600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:8091400-8127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:8092000-8108600	Weak transcription	Right Ventricle	heart
18	chr7:8092400-8108600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:8092600-8108600	Weak transcription	Right Atrium	heart
20	chr7:8094000-8127800	Weak transcription	HSMM	muscle
21	chr7:8095200-8108600	Weak transcription	Left Ventricle	heart
22	chr7:8095200-8125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:8095400-8129600	Weak transcription	Gastric	stomach
24	chr7:8095600-8108600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:8095800-8108600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:8096000-8108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:8096000-8125800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:8096000-8127600	Weak transcription	Esophagus	oesophagus
29	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
30	chr7:8096400-8108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:8097200-8114400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:8097400-8124600	Weak transcription	Fetal Intestine Large	intestine
33	chr7:8099200-8113200	Strong transcription	Primary B cells from cord blood	blood
34	chr7:8100400-8124600	Weak transcription	Liver	Liver
35	chr7:8100600-8112800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:8100800-8125000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:8102400-8110400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:8102400-8111800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:8102600-8111800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:8102800-8110400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:8102800-8130000	Weak transcription	Fetal Lung	lung
42	chr7:8103000-8124600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:8103000-8125200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:8103000-8127800	Weak transcription	Fetal Brain Female	brain
45	chr7:8103000-8128000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:8103000-8135400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:8103200-8110400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:8103200-8131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr7:8103400-8110200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:8103400-8110400	Weak transcription	Placenta	Placenta

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