Variant report

Variant	rs57509649
Chromosome Location	chr7:39680405-39680406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39661536..39664471-chr7:39679572..39681314,3	MCF-7	breast:
2	chr7:39678677..39680860-chr7:39681239..39684252,3	K562	blood:
3	chr7:39678848..39680622-chr7:39760404..39763010,2	K562	blood:
4	chr7:39670051..39674974-chr7:39675213..39680609,7	K562	blood:

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17171616	0.84[AFR][1000 genomes]
rs3801265	0.88[AFR][1000 genomes]
rs59341821	0.96[AFR][1000 genomes]
rs73381116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381122	0.88[AFR][1000 genomes]
rs73381129	0.90[AFR][1000 genomes]
rs73381131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387334	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73387337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387350	1.00[AFR][1000 genomes]
rs73387354	0.92[AFR][1000 genomes]
rs73387357	1.00[AFR][1000 genomes]
rs73387375	1.00[AFR][1000 genomes]
rs73389244	0.96[AFR][1000 genomes]
rs73389259	0.96[AFR][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	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39665600-39682200	Weak transcription	Liver	Liver
2	chr7:39666200-39681800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:39666200-39694400	Weak transcription	Fetal Brain Female	brain
4	chr7:39666800-39681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:39667200-39698800	Weak transcription	Fetal Kidney	kidney
6	chr7:39668200-39681000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:39668200-39681000	Weak transcription	Fetal Heart	heart
8	chr7:39668600-39680600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:39669600-39681200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:39671800-39693800	Weak transcription	A549	lung
11	chr7:39672200-39681600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:39672200-39681800	Weak transcription	Gastric	stomach
13	chr7:39672200-39681800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:39672200-39684000	Weak transcription	NHLF	lung
15	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
16	chr7:39672400-39683200	Weak transcription	Pancreas	Pancrea
17	chr7:39672800-39681800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:39674000-39681600	Weak transcription	Fetal Lung	lung
19	chr7:39674000-39690200	Weak transcription	NH-A	brain
20	chr7:39674000-39690800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:39674200-39680600	Weak transcription	HSMM	muscle
22	chr7:39674200-39681600	Weak transcription	Fetal Intestine Large	intestine
23	chr7:39674200-39683200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:39674200-39683800	Weak transcription	Spleen	Spleen
25	chr7:39674200-39690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:39674200-39691400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:39674200-39696000	Weak transcription	Thymus	Thymus
28	chr7:39674400-39683800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:39674400-39685400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:39674800-39682400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:39675200-39682800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:39675200-39683800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:39675200-39708800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:39675600-39688200	Weak transcription	Fetal Stomach	stomach
35	chr7:39675600-39701400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:39675800-39691600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:39676000-39682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:39676600-39680600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:39676600-39681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:39676600-39683400	Weak transcription	Osteobl	bone
41	chr7:39676600-39683600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:39676600-39690200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:39676600-39694400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:39676600-39694400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:39676600-39694400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:39676800-39681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:39676800-39685200	Weak transcription	HepG2	liver
48	chr7:39677000-39681800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:39677400-39681600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:39677400-39694200	Weak transcription	Monocytes-CD14+_RO01746	blood

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