Variant report

Variant	rs4146028
Chromosome Location	chr7:64499532-64499533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:64467103..64469967-chr7:64496870..64499849,2	K562	blood:
2	chr7:64253690..64256534-chr7:64497237..64499995,2	K562	blood:
3	chr7:64465739..64467675-chr7:64497142..64500012,3	MCF-7	breast:
4	chr7:64498619..64500351-chr7:65337220..65338727,3	MCF-7	breast:
5	chr7:64465846..64468983-chr7:64497347..64500243,4	MCF-7	breast:
6	chr7:64499257..64501633-chr7:64540419..64543070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213462	Chromatin interaction
ENSG00000152926	Chromatin interaction
ENSG00000197008	Chromatin interaction
ENSG00000196715	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10234341	1.00[EUR][1000 genomes]
rs10237712	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10247582	1.00[EUR][1000 genomes]
rs10248989	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10807688	0.83[AMR][1000 genomes]
rs10949965	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11768146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13232354	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13233340	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1709519	0.83[AMR][1000 genomes]
rs1815140	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1830008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1965535	0.87[AFR][1000 genomes]
rs1967608	0.85[AFR][1000 genomes]
rs1972156	0.83[AMR][1000 genomes]
rs2049441	0.83[AMR][1000 genomes]
rs2140725	0.92[AMR][1000 genomes]
rs34107917	0.94[AFR][1000 genomes]
rs3857672	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4380813	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4422675	0.83[AMR][1000 genomes]
rs4717231	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60280835	0.85[AFR][1000 genomes]
rs62456523	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6460223	0.83[AMR][1000 genomes]
rs6946394	0.91[AFR][1000 genomes]
rs6959107	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7787889	1.00[EUR][1000 genomes]
rs7789630	0.83[AMR][1000 genomes]
rs7790622	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
17	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
19	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
20	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
23	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
24	esv3393496	chr7:64497342-64499890	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	esv3398872	chr7:64497667-64499790	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	esv15917	chr7:64498240-64499881	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64498000-64499600	Active TSS	Colon Smooth Muscle	Colon
2	chr7:64498000-64499800	Active TSS	Brain Angular Gyrus	brain
3	chr7:64498000-64499800	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:64498000-64500000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:64498000-64500000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:64498000-64500000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:64498000-64500000	Active TSS	Brain Anterior Caudate	brain
8	chr7:64498000-64500200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:64498000-64500200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:64498000-64500400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:64498000-64500400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:64498200-64499600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:64498200-64499600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:64498200-64499600	Active TSS	Brain Germinal Matrix	brain
15	chr7:64498200-64499600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:64498200-64499600	Active TSS	NHEK	skin
17	chr7:64498200-64499600	Active TSS	Osteobl	bone
18	chr7:64498200-64499800	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr7:64498200-64499800	Active TSS	Brain Substantia Nigra	brain
20	chr7:64498200-64499800	Active TSS	Fetal Muscle Leg	muscle
21	chr7:64498200-64499800	Active TSS	Left Ventricle	heart
22	chr7:64498200-64499800	Active TSS	Psoas Muscle	Psoas
23	chr7:64498200-64499800	Active TSS	HSMM	muscle
24	chr7:64498200-64500000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:64498200-64500000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr7:64498200-64500000	Active TSS	Fetal Brain Female	brain
27	chr7:64498200-64500000	Active TSS	Fetal Lung	lung
28	chr7:64498200-64500000	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:64498200-64500000	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:64498200-64500000	Active TSS	Thymus	Thymus
31	chr7:64498200-64500000	Active TSS	A549	lung
32	chr7:64498200-64500000	Active TSS	HSMMtube	muscle
33	chr7:64498200-64500200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr7:64498200-64500200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr7:64498200-64500200	Active TSS	Fetal Kidney	kidney
36	chr7:64498200-64500200	Active TSS	Right Atrium	heart
37	chr7:64498200-64500200	Active TSS	Stomach Smooth Muscle	stomach
38	chr7:64498200-64500400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:64498200-64500400	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr7:64498200-64500400	Active TSS	Fetal Intestine Large	intestine
41	chr7:64498200-64500400	Active TSS	Fetal Intestine Small	intestine
42	chr7:64498200-64500400	Active TSS	NHLF	lung
43	chr7:64498200-64500600	Active TSS	GM12878-XiMat	blood
44	chr7:64498400-64499600	Active TSS	Dnd41	blood
45	chr7:64498400-64499800	Active TSS	Primary T cells fromperipheralblood	blood
46	chr7:64498400-64499800	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr7:64498400-64499800	Active TSS	Placenta	Placenta
48	chr7:64498400-64500000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:64498400-64500000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:64498400-64500000	Active TSS	Fetal Muscle Trunk	muscle

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