Variant report

Variant	rs7781392
Chromosome Location	chr7:40029772-40029773
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40016185..40017725-chr7:40028366..40031128,2	K562	blood:
2	chr7:40025445..40027288-chr7:40029164..40032016,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10277422	0.92[YRI][hapmap]
rs17171650	0.84[AFR][1000 genomes]
rs17171651	0.83[AFR][1000 genomes]
rs17496240	0.88[AFR][1000 genomes]
rs17496254	0.91[AFR][1000 genomes]
rs17537775	0.91[AFR][1000 genomes]
rs17537936	0.86[AFR][1000 genomes]
rs17537957	0.91[AFR][1000 genomes]
rs17538139	0.90[AFR][1000 genomes]
rs57602515	0.88[AFR][1000 genomes]
rs57832352	0.88[AFR][1000 genomes]
rs60166394	0.83[AFR][1000 genomes]
rs60489461	0.91[AFR][1000 genomes]
rs6977290	0.90[AFR][1000 genomes]
rs7797651	0.90[AFR][1000 genomes]
rs7797841	0.90[AFR][1000 genomes]
rs7801937	0.80[YRI][hapmap]
rs7803136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809041	0.93[AFR][1000 genomes]
rs9690073	0.80[YRI][hapmap]
rs9692066	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv518849	chr7:40021044-40030488	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39995200-40042600	Weak transcription	K562	blood
3	chr7:40006800-40031200	Weak transcription	Fetal Stomach	stomach
4	chr7:40018600-40047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:40020000-40037400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:40023400-40046800	Weak transcription	HMEC	breast
8	chr7:40023800-40043200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:40025000-40031400	Weak transcription	Fetal Intestine Small	intestine
10	chr7:40025400-40033200	Weak transcription	NHLF	lung
11	chr7:40025600-40031000	Weak transcription	Fetal Brain Male	brain
12	chr7:40025600-40031400	Weak transcription	Ovary	ovary
13	chr7:40025600-40031400	Weak transcription	Psoas Muscle	Psoas
14	chr7:40025600-40035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:40025600-40037200	Weak transcription	Fetal Lung	lung
16	chr7:40025600-40042600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:40025600-40046800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:40025800-40031400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:40025800-40031400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:40025800-40031400	Weak transcription	Lung	lung
22	chr7:40025800-40035000	Weak transcription	GM12878-XiMat	blood
23	chr7:40025800-40039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:40025800-40043200	Weak transcription	Left Ventricle	heart
25	chr7:40025800-40054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:40025800-40055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:40025800-40055400	Weak transcription	Fetal Heart	heart
28	chr7:40025800-40055400	Weak transcription	Stomach Mucosa	stomach
29	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
32	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
33	chr7:40026200-40031400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:40026400-40036800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
36	chr7:40026800-40029800	Strong transcription	Fetal Thymus	thymus
37	chr7:40026800-40032200	Strong transcription	Primary B cells from cord blood	blood
38	chr7:40026800-40032200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:40026800-40032800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:40027200-40031800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr7:40027200-40031800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:40027200-40032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:40027400-40030600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:40027400-40031000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:40027400-40032600	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:40027400-40045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:40027600-40031400	Weak transcription	Gastric	stomach
48	chr7:40027600-40032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:40027600-40042000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:40027600-40042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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