Variant report

Variant	rs10254813
Chromosome Location	chr7:137614896-137614897
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	RFX5	chr7:137614886-137615974	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
CREB3L2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10229718	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10257051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10274570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17169455	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56384334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729525	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73729526	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73729527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv5964	chr7:137599451-137616300	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
2	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:137588800-137620200	Weak transcription	Dnd41	blood
4	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
5	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
7	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
8	chr7:137603200-137617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:137605200-137618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:137605400-137615200	Weak transcription	Pancreas	Pancrea
11	chr7:137605800-137618400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:137606400-137619000	Weak transcription	Primary T cells from cord blood	blood
13	chr7:137606600-137617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:137606600-137617600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:137606800-137615000	Weak transcription	HUVEC	blood vessel
16	chr7:137606800-137615200	Weak transcription	Right Atrium	heart
17	chr7:137610800-137615000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:137610800-137615200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:137610800-137617200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:137611000-137617400	Weak transcription	Fetal Heart	heart
21	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:137611600-137615000	Weak transcription	NHEK	skin
23	chr7:137611600-137615200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:137611600-137616800	Weak transcription	Fetal Kidney	kidney
25	chr7:137611600-137617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:137611800-137618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:137612000-137617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:137612000-137618400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:137612600-137617200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:137612600-137617600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:137612800-137615000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:137612800-137615000	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:137612800-137615000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:137612800-137615000	Weak transcription	HSMM	muscle
36	chr7:137612800-137618200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
38	chr7:137613000-137615000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:137613000-137615000	Weak transcription	Aorta	Aorta
40	chr7:137613000-137615000	Weak transcription	Right Ventricle	heart
41	chr7:137613000-137615000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:137613000-137615000	Weak transcription	Spleen	Spleen
43	chr7:137613000-137615000	Weak transcription	A549	lung
44	chr7:137613000-137617400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:137613000-137617400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:137613000-137617400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:137613000-137617400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:137613000-137617400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:137613000-137617600	Weak transcription	Esophagus	oesophagus
50	chr7:137613000-137617600	Weak transcription	Lung	lung

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