Variant report

Variant	rs773387
Chromosome Location	chr7:40011532-40011533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39992179..39995720-chr7:40011134..40014847,3	K562	blood:
2	chr7:40005726..40008469-chr7:40010129..40013269,3	K562	blood:
3	chr7:40006687..40008469-chr7:40010129..40011913,2	K562	blood:
4	chr7:39991743..39994324-chr7:40009939..40012634,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1082021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082027	1.00[AMR][1000 genomes]
rs1082033	1.00[AMR][1000 genomes]
rs12113257	1.00[AMR][1000 genomes]
rs1257697	1.00[AMR][1000 genomes]
rs1257711	1.00[AMR][1000 genomes]
rs1314087	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1829909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55825872	1.00[AMR][1000 genomes]
rs55913371	1.00[AMR][1000 genomes]
rs56684313	1.00[AMR][1000 genomes]
rs58681548	1.00[AMR][1000 genomes]
rs73687511	1.00[AMR][1000 genomes]
rs773380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773389	1.00[YRI][hapmap]
rs773394	1.00[AMR][1000 genomes]
rs773396	1.00[AMR][1000 genomes]
rs773400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773401	1.00[AMR][1000 genomes]
rs773404	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773406	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773408	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs773409	1.00[YRI][hapmap]
rs773416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773418	1.00[AMR][1000 genomes]
rs773419	1.00[AMR][1000 genomes]
rs773420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773421	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773422	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773423	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs808913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942572	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	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	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:82 , 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	chr7:39994800-40018000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:39995000-40018200	Weak transcription	Spleen	Spleen
5	chr7:39995200-40042600	Weak transcription	K562	blood
6	chr7:39996800-40014800	Weak transcription	Right Ventricle	heart
7	chr7:39996800-40016600	Weak transcription	Gastric	stomach
8	chr7:39997200-40015200	Weak transcription	Small Intestine	intestine
9	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:39998000-40027200	Weak transcription	Hela-S3	cervix
11	chr7:39998200-40013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:39999800-40013600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:40000400-40016600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:40001000-40016600	Weak transcription	Dnd41	blood
15	chr7:40001000-40018600	Weak transcription	Thymus	Thymus
16	chr7:40001200-40014800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:40001200-40016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:40001200-40018200	Weak transcription	Fetal Thymus	thymus
19	chr7:40005600-40021000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:40005600-40021000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:40006200-40015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:40006600-40018200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:40006600-40019800	Enhancers	Primary B cells from peripheral blood	blood
24	chr7:40006800-40031200	Weak transcription	Fetal Stomach	stomach
25	chr7:40007000-40014600	Weak transcription	Fetal Intestine Small	intestine
26	chr7:40007000-40014800	Weak transcription	Left Ventricle	heart
27	chr7:40007000-40014800	Weak transcription	Psoas Muscle	Psoas
28	chr7:40007200-40017400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:40007200-40027200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:40007400-40011600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:40007600-40011600	Weak transcription	Adipose Nuclei	Adipose
32	chr7:40007600-40027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:40008200-40011600	Weak transcription	Brain Anterior Caudate	brain
34	chr7:40008200-40016400	Weak transcription	Aorta	Aorta
35	chr7:40008200-40016800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:40008800-40018200	Weak transcription	Right Atrium	heart
37	chr7:40009000-40016800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:40009400-40011600	Enhancers	Primary B cells from cord blood	blood
39	chr7:40009400-40011600	Weak transcription	Brain Angular Gyrus	brain
40	chr7:40009400-40011600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:40009400-40011600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:40009400-40011600	Enhancers	GM12878-XiMat	blood
43	chr7:40009400-40011600	Weak transcription	NHLF	lung
44	chr7:40009400-40015200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:40009400-40020800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr7:40009400-40027200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:40009400-40027400	Weak transcription	Osteobl	bone
48	chr7:40009600-40011600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:40009600-40011600	Weak transcription	NHDF-Ad	bronchial
50	chr7:40009600-40015200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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