Variant report

Variant	rs7684067
Chromosome Location	chr4:79776667-79776668
allele	A/G
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	POLR2A	chr4:79775798-79779495	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79769347..79772550-chr4:79776506..79778988,3	K562	blood:
2	chr4:79774563..79776854-chr4:79782145..79784064,2	K562	blood:
3	chr4:79770645..79772901-chr4:79776506..79779680,4	K562	blood:

Variant related genes	Relation type
BMP2K	TF binding region
ENSG00000138756	Chromatin interaction

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

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

rs_ID	r²[population]
rs17003455	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003473	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6534058	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6845746	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6851210	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657861	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7659561	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7659927	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7672320	0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7673161	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7675414	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682647	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7697687	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][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	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1011365	chr4:79714695-79779723	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1007685	chr4:79732468-79788768	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79738800-79793200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:79744600-79793800	Weak transcription	Psoas Muscle	Psoas
3	chr4:79745800-79786400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:79746800-79783400	Weak transcription	A549	lung
5	chr4:79747200-79815600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:79748800-79823600	Weak transcription	Small Intestine	intestine
7	chr4:79749200-79793600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:79749400-79780000	Weak transcription	HUVEC	blood vessel
9	chr4:79749400-79782000	Weak transcription	HepG2	liver
10	chr4:79749400-79792400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:79749400-79793800	Weak transcription	Gastric	stomach
12	chr4:79749600-79781000	Weak transcription	Ovary	ovary
13	chr4:79749600-79784600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:79749600-79793000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:79749600-79793600	Weak transcription	Brain Germinal Matrix	brain
16	chr4:79749600-79793800	Weak transcription	Fetal Brain Female	brain
17	chr4:79749800-79781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:79749800-79786800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:79749800-79788000	Weak transcription	Lung	lung
20	chr4:79749800-79793400	Weak transcription	Thymus	Thymus
21	chr4:79749800-79793600	Weak transcription	Colonic Mucosa	Colon
22	chr4:79750200-79786600	Weak transcription	Left Ventricle	heart
23	chr4:79750200-79787600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:79750400-79777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:79750400-79783400	Weak transcription	NHEK	skin
26	chr4:79750400-79786800	Weak transcription	NH-A	brain
27	chr4:79750400-79791400	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:79750400-79792200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:79750400-79792600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:79750400-79793600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:79750400-79797000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:79750600-79778400	Weak transcription	Fetal Heart	heart
33	chr4:79750600-79792600	Weak transcription	HSMMtube	muscle
34	chr4:79750600-79793600	Weak transcription	Fetal Kidney	kidney
35	chr4:79752400-79783400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:79755400-79781200	Weak transcription	HMEC	breast
37	chr4:79759600-79786600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:79759600-79786800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:79759600-79787800	Weak transcription	Fetal Stomach	stomach
40	chr4:79759600-79792400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:79759800-79781400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:79760000-79792400	Weak transcription	Fetal Lung	lung
43	chr4:79760600-79787800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:79760600-79787800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:79760600-79794800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:79761000-79791800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:79761200-79786800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:79764600-79777400	Weak transcription	Fetal Thymus	thymus
49	chr4:79764600-79780800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:79764600-79787800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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