Variant report

Variant	rs12683564
Chromosome Location	chr9:97822222-97822223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97822176..97825096-chr9:97827855..97830416,5	MCF-7	breast:
2	chr9:97626134..97628785-chr9:97822106..97824115,2	K562	blood:
3	chr9:97810442..97812969-chr9:97820815..97822435,2	MCF-7	breast:
4	chr9:97815564..97817505-chr9:97820080..97822608,2	MCF-7	breast:
5	chr9:97821527..97823304-chr9:97837475..97839849,2	MCF-7	breast:
6	chr9:97821556..97825075-chr9:97832512..97834984,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12683030	0.86[ASN][1000 genomes]
rs12683692	0.95[ASN][1000 genomes]
rs3802449	0.86[ASN][1000 genomes]
rs3802450	1.00[ASN][1000 genomes]
rs4647549	0.91[ASN][1000 genomes]
rs72750391	1.00[ASN][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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 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	chr9:97813000-97873000	Weak transcription	K562	blood
2	chr9:97813400-97827200	Genic enhancers	Liver	Liver
3	chr9:97815200-97824400	Weak transcription	Thymus	Thymus
4	chr9:97816000-97823000	Enhancers	Fetal Heart	heart
5	chr9:97817600-97826000	Genic enhancers	HepG2	liver
6	chr9:97817600-97826400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:97818000-97822800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:97818000-97824400	Weak transcription	GM12878-XiMat	blood
9	chr9:97818200-97823000	Enhancers	Stomach Mucosa	stomach
10	chr9:97818400-97825000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:97818800-97830400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:97819000-97822400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:97819000-97824600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:97819200-97823400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:97819200-97824200	Weak transcription	Adipose Nuclei	Adipose
16	chr9:97819200-97824400	Weak transcription	HUVEC	blood vessel
17	chr9:97819600-97824200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:97819800-97822600	Enhancers	Fetal Muscle Leg	muscle
19	chr9:97819800-97822800	Enhancers	NH-A	brain
20	chr9:97819800-97823200	Enhancers	Brain Angular Gyrus	brain
21	chr9:97819800-97824200	Weak transcription	HMEC	breast
22	chr9:97819800-97826000	Genic enhancers	HSMM	muscle
23	chr9:97820000-97822800	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:97820000-97822800	Weak transcription	Small Intestine	intestine
25	chr9:97820000-97823000	Enhancers	Fetal Lung	lung
26	chr9:97820000-97824600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:97820000-97854200	Weak transcription	Fetal Brain Male	brain
28	chr9:97820200-97822400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:97820200-97823000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:97820200-97825000	Enhancers	Brain Substantia Nigra	brain
31	chr9:97820400-97822800	Weak transcription	Fetal Intestine Large	intestine
32	chr9:97820400-97825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:97820400-97840800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:97820400-97843000	Weak transcription	Primary T cells from cord blood	blood
35	chr9:97820600-97824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:97820600-97824800	Weak transcription	Fetal Kidney	kidney
37	chr9:97820600-97825600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:97820600-97875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr9:97820800-97823000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:97820800-97823000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr9:97820800-97823200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:97820800-97823400	Genic enhancers	Fetal Stomach	stomach
43	chr9:97821000-97822400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:97821000-97824200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:97821000-97838400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:97821200-97822800	Enhancers	NHLF	lung
47	chr9:97821200-97823600	Enhancers	Brain Hippocampus Middle	brain
48	chr9:97821200-97823600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr9:97821200-97823600	Genic enhancers	Right Ventricle	heart
50	chr9:97821200-97824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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