Variant report

Variant	rs6849290
Chromosome Location	chr4:129443161-129443162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129421881..129423817-chr4:129441998..129444366,2	K562	blood:
2	chr4:129416831..129418585-chr4:129440771..129443308,2	K562	blood:
3	chr4:129442315..129445081-chr4:129731036..129733877,2	K562	blood:
4	chr4:129442460..129444542-chr4:129464798..129467523,2	K562	blood:
5	chr4:129430857..129433263-chr4:129441032..129444868,3	K562	blood:
6	chr4:129441725..129445424-chr4:129472669..129476774,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000273077	Chromatin interaction

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

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

rs_ID	r²[population]
rs10518533	0.82[ASN][1000 genomes]
rs11733387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11937124	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13108573	0.84[AMR][1000 genomes]
rs13115644	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1603886	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1603887	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2062456	0.87[CEU][hapmap];0.85[AMR][1000 genomes]
rs4362840	0.96[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4975185	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4975186	0.82[ASN][1000 genomes]
rs6534686	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6534687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6534691	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6821679	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6840580	0.83[CEU][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7441245	0.96[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129425800-129445600	Weak transcription	Gastric	stomach
2	chr4:129433400-129443200	Weak transcription	Lung	lung
3	chr4:129437000-129443400	Enhancers	NHLF	lung
4	chr4:129437600-129447400	Enhancers	HUVEC	blood vessel
5	chr4:129439200-129443600	Weak transcription	Aorta	Aorta
6	chr4:129439200-129449400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:129439200-129450000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:129439600-129443600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:129439600-129444000	Enhancers	K562	blood
10	chr4:129439600-129445000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:129439600-129445200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:129439600-129445400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:129439800-129445200	Weak transcription	HMEC	breast
14	chr4:129439800-129445200	Weak transcription	NHEK	skin
15	chr4:129439800-129446800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:129440000-129445200	Weak transcription	Adipose Nuclei	Adipose
17	chr4:129440200-129444000	Enhancers	NHDF-Ad	bronchial
18	chr4:129440200-129445600	Weak transcription	Esophagus	oesophagus
19	chr4:129440200-129450000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:129440400-129450000	Weak transcription	Fetal Stomach	stomach
21	chr4:129441000-129443200	Weak transcription	Left Ventricle	heart
22	chr4:129441000-129443400	Weak transcription	Right Ventricle	heart
23	chr4:129441000-129445400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:129441000-129450000	Weak transcription	Ovary	ovary
25	chr4:129441200-129443200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:129441200-129444200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:129441200-129445200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:129441200-129450000	Weak transcription	Psoas Muscle	Psoas
29	chr4:129441400-129445600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:129441800-129443400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:129441800-129443600	Enhancers	Hela-S3	cervix
32	chr4:129441800-129443600	Enhancers	NH-A	brain
33	chr4:129441800-129443600	Enhancers	Osteobl	bone
34	chr4:129441800-129443800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:129441800-129443800	Enhancers	A549	lung
36	chr4:129442000-129443200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:129442000-129443600	Enhancers	Fetal Heart	heart
38	chr4:129442000-129443600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:129442200-129443200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:129442200-129443200	Enhancers	Stomach Mucosa	stomach
41	chr4:129442200-129443600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:129442200-129443600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:129442200-129443600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:129442200-129445400	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:129442400-129443200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:129442400-129443400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:129442400-129443400	Enhancers	HSMMtube	muscle
48	chr4:129442400-129443600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:129442400-129443600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:129442400-129443600	Enhancers	HSMM	muscle

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