Variant report

Variant	rs506640
Chromosome Location	chr7:16635638-16635639
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	TEAD4	chr7:16635247-16635644	K562	blood:	n/a	n/a
2	GATA2	chr7:16635217-16635642	K562	blood:	n/a	n/a
3	TEAD4	chr7:16635229-16635647	K562	blood:	n/a	n/a
4	POLR2A	chr7:16635193-16636155	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16635320..16637285-chr7:16647888..16649843,2	K562	blood:

Variant related genes	Relation type
ENSG00000272361	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4721517	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs476489	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs481026	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs481543	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503157	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs504927	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs506875	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs511938	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs514114	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs516038	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs517203	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs541797	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs561370	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs568211	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv887758	chr7:16632561-16668034	Strong transcription Weak transcription Enhancers 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	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16624000-16645600	Weak transcription	Gastric	stomach
2	chr7:16626000-16638000	Weak transcription	Fetal Stomach	stomach
3	chr7:16626400-16639400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:16626600-16637800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:16627000-16637800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:16627800-16637800	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:16627800-16639400	Weak transcription	Brain Germinal Matrix	brain
8	chr7:16627800-16640200	Weak transcription	Fetal Brain Female	brain
9	chr7:16627800-16640200	Weak transcription	Right Ventricle	heart
10	chr7:16627800-16654200	Weak transcription	Brain Angular Gyrus	brain
11	chr7:16628000-16637800	Weak transcription	Adipose Nuclei	Adipose
12	chr7:16628200-16639000	Weak transcription	Left Ventricle	heart
13	chr7:16628400-16639000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:16629600-16642400	Weak transcription	Fetal Brain Male	brain
15	chr7:16629800-16638800	Weak transcription	Aorta	Aorta
16	chr7:16630000-16638000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:16630400-16638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:16630400-16640600	Weak transcription	A549	lung
19	chr7:16630400-16643000	Weak transcription	HUVEC	blood vessel
20	chr7:16630600-16637800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:16630600-16637800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:16630600-16639400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:16630600-16640800	Weak transcription	Fetal Heart	heart
24	chr7:16630800-16638400	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:16630800-16643000	Weak transcription	Thymus	Thymus
26	chr7:16632000-16638000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:16632200-16640200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:16632400-16637800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:16632400-16638200	Weak transcription	Psoas Muscle	Psoas
30	chr7:16632400-16639200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:16632600-16639400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:16632600-16643200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:16634200-16637400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:16634200-16639400	Weak transcription	NH-A	brain
35	chr7:16634200-16640200	Weak transcription	NHLF	lung
36	chr7:16634200-16642400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:16634200-16649600	Weak transcription	Hela-S3	cervix
38	chr7:16634400-16637600	Weak transcription	Stomach Mucosa	stomach
39	chr7:16634400-16637800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:16634400-16637800	Weak transcription	HSMM	muscle
41	chr7:16634400-16638200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:16634400-16638200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:16634400-16639000	Weak transcription	Ovary	ovary
44	chr7:16634400-16639600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:16634400-16640200	Weak transcription	Pancreas	Pancrea
46	chr7:16634600-16636200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:16634600-16637800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:16634600-16639000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:16634600-16639600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:16634800-16637600	Weak transcription	Dnd41	blood

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