Variant report

Variant	rs61654493
Chromosome Location	chr6:43731443-43731444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43631256..43632895-chr6:43730979..43733533,2	MCF-7	breast:
2	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
3	chr6:43730421..43734322-chr6:43919726..43923267,3	K562	blood:
4	chr6:43633891..43636321-chr6:43729623..43731755,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231881	Chromatin interaction
ENSG00000237686	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs3024990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36208048	1.00[EUR][1000 genomes]
rs56786163	1.00[AMR][1000 genomes]
rs57474222	1.00[AMR][1000 genomes]
rs58633664	1.00[AMR][1000 genomes]
rs61135117	1.00[AMR][1000 genomes]
rs73426772	1.00[AMR][1000 genomes]
rs73428610	1.00[AMR][1000 genomes]
rs73428644	1.00[AMR][1000 genomes]
rs9462906	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	nsv869383	chr6:43505094-43752189	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
3	nsv1018626	chr6:43694649-43803732	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv3336485	chr6:43730848-43733789	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43709000-43737000	Weak transcription	Right Atrium	heart
2	chr6:43722000-43737400	Weak transcription	Fetal Kidney	kidney
3	chr6:43725800-43733400	Enhancers	Fetal Lung	lung
4	chr6:43727200-43733800	Bivalent Enhancer	HepG2	liver
5	chr6:43727600-43737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:43728000-43731800	Enhancers	Fetal Muscle Leg	muscle
7	chr6:43729200-43734600	Enhancers	Fetal Stomach	stomach
8	chr6:43729200-43737200	Weak transcription	Spleen	Spleen
9	chr6:43729800-43731800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:43729800-43731800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:43729800-43737400	Enhancers	Fetal Intestine Small	intestine
12	chr6:43730000-43737400	Enhancers	Fetal Intestine Large	intestine
13	chr6:43730400-43732000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:43730400-43732000	Enhancers	Osteobl	bone
15	chr6:43730400-43732400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:43730400-43732600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:43730400-43732600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:43730800-43731600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:43730800-43731800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:43730800-43732000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:43730800-43732200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:43730800-43734000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:43731000-43731600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:43731000-43731600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr6:43731000-43731800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:43731000-43731800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:43731000-43733000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:43731200-43731600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:43731200-43731600	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:43731200-43731800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:43731200-43731800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:43731200-43732000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:43731200-43732400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:43731200-43732400	Weak transcription	Pancreas	Pancrea
35	chr6:43731200-43732400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:43731200-43732600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:43731200-43733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:43731400-43731600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:43731400-43731600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:43731400-43731600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
41	chr6:43731400-43731600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:43731400-43731600	Bivalent Enhancer	HSMMtube	muscle
43	chr6:43731400-43731800	Enhancers	Ovary	ovary
44	chr6:43731400-43732000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:43731400-43732600	Enhancers	K562	blood
46	chr6:43731400-43737400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:43731400-43737400	Enhancers	Stomach Mucosa	stomach

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