Variant report

Variant	rs554075400
Chromosome Location	chr7:40019297-40019298
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39989834..39993162-chr7:40018221..40020870,3	K562	blood:
2	chr7:39988014..39992779-chr7:40016991..40021232,5	K562	blood:
3	chr7:39986728..39990828-chr7:40016183..40019996,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065883	Chromatin interaction
ENSG00000259826	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39994200-40027200	Weak transcription	HSMM	muscle
3	chr7:39995200-40042600	Weak transcription	K562	blood
4	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:39998000-40027200	Weak transcription	Hela-S3	cervix
6	chr7:40005600-40021000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr7:40005600-40021000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:40006600-40019800	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:40006800-40031200	Weak transcription	Fetal Stomach	stomach
10	chr7:40007200-40027200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:40007600-40027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:40009400-40020800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:40009400-40027200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:40009400-40027400	Weak transcription	Osteobl	bone
15	chr7:40009600-40027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:40009800-40027200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:40010000-40024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:40010000-40026800	Weak transcription	NHEK	skin
19	chr7:40010200-40025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:40010400-40027200	Weak transcription	Esophagus	oesophagus
21	chr7:40011000-40021000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:40011200-40023600	Weak transcription	Lung	lung
23	chr7:40011200-40025400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:40011400-40027400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:40014200-40021200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:40014800-40021200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:40015000-40023600	Weak transcription	Fetal Intestine Small	intestine
28	chr7:40016000-40021000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:40016200-40020200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:40016400-40019600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr7:40016400-40020200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:40016600-40019400	Enhancers	Brain Substantia Nigra	brain
33	chr7:40016600-40019400	Enhancers	Dnd41	blood
34	chr7:40016600-40019600	Enhancers	Brain Angular Gyrus	brain
35	chr7:40016600-40019800	Enhancers	Brain Hippocampus Middle	brain
36	chr7:40016600-40020400	Enhancers	Colon Smooth Muscle	Colon
37	chr7:40016600-40021000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:40016800-40020000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:40016800-40027200	Weak transcription	A549	lung
40	chr7:40017200-40019400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:40017200-40019800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr7:40017400-40020400	Weak transcription	Ovary	ovary
43	chr7:40017400-40027400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:40017600-40024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:40017800-40026800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:40017800-40027400	Weak transcription	Liver	Liver
47	chr7:40018000-40019400	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:40018000-40025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:40018000-40025200	Weak transcription	Small Intestine	intestine
50	chr7:40018200-40019600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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