Variant report

Variant	rs9472122
Chromosome Location	chr6:43730192-43730193
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43635642..43637248-chr6:43729163..43731133,2	MCF-7	breast:
2	chr6:43728093..43730393-chr6:44214659..44216822,2	K562	blood:
3	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
4	chr6:43634977..43636612-chr6:43728404..43730351,2	K562	blood:
5	chr6:43595479..43598083-chr6:43727572..43730446,2	K562	blood:
6	chr6:43633891..43636321-chr6:43729623..43731755,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231881	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000172432	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10948099	1.00[CEU][hapmap]
rs3024993	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6458353	1.00[CEU][hapmap]
rs6909750	1.00[MEX][hapmap]
rs9394966	1.00[CEU][hapmap]
rs9472148	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:38 , 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	chr6:43726000-43731200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:43726200-43731400	Weak transcription	Ovary	ovary
6	chr6:43727000-43731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:43727200-43730800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:43727200-43731000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:43727200-43733800	Bivalent Enhancer	HepG2	liver
10	chr6:43727600-43731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:43727600-43731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:43727600-43731400	Weak transcription	Stomach Mucosa	stomach
13	chr6:43727600-43737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:43728000-43730600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:43728000-43731800	Enhancers	Fetal Muscle Leg	muscle
16	chr6:43728600-43731000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:43728800-43731200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:43728800-43731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:43729000-43731200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:43729200-43734600	Enhancers	Fetal Stomach	stomach
21	chr6:43729200-43737200	Weak transcription	Spleen	Spleen
22	chr6:43729600-43730400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:43729600-43730800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:43729600-43731200	Enhancers	Pancreas	Pancrea
25	chr6:43729800-43730200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr6:43729800-43730400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:43729800-43731800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:43729800-43731800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:43729800-43737400	Enhancers	Fetal Intestine Small	intestine
30	chr6:43730000-43730200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:43730000-43730200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:43730000-43730400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:43730000-43730400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:43730000-43730400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr6:43730000-43731000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:43730000-43731200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:43730000-43731400	Bivalent Enhancer	Placenta	Placenta
38	chr6:43730000-43737400	Enhancers	Fetal Intestine Large	intestine

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