Variant report

Variant	rs34597805
Chromosome Location	chr22:34306792-34306793
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:34296334..34297959-chr22:34304595..34307456,3	MCF-7	breast:
2	chr22:34304733..34311493-chr22:34313014..34317407,8	MCF-7	breast:
3	chr22:34305108..34307624-chr22:34315419..34317424,2	MCF-7	breast:
4	chr22:34300595..34304253-chr22:34306616..34309764,3	MCF-7	breast:
5	chr22:34306645..34309140-chr22:34317602..34320390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	Chromatin interaction
ENSG00000273082	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1005680	1.00[ASN][1000 genomes]
rs10483174	1.00[ASN][1000 genomes]
rs11703305	1.00[ASN][1000 genomes]
rs11704212	1.00[ASN][1000 genomes]
rs11705063	1.00[ASN][1000 genomes]
rs11912301	1.00[ASN][1000 genomes]
rs11912405	1.00[ASN][1000 genomes]
rs11913804	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11914012	1.00[ASN][1000 genomes]
rs130523	1.00[ASN][1000 genomes]
rs13055480	1.00[ASN][1000 genomes]
rs16993078	1.00[ASN][1000 genomes]
rs16993089	1.00[ASN][1000 genomes]
rs17747599	1.00[ASN][1000 genomes]
rs2413206	1.00[ASN][1000 genomes]
rs2413208	1.00[ASN][1000 genomes]
rs34060203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34290110	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34375307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34455747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34871405	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35838699	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36006309	1.00[ASN][1000 genomes]
rs55819147	1.00[ASN][1000 genomes]
rs55963330	1.00[ASN][1000 genomes]
rs5749698	1.00[ASN][1000 genomes]
rs5754739	1.00[ASN][1000 genomes]
rs5754746	1.00[ASN][1000 genomes]
rs58634529	1.00[ASN][1000 genomes]
rs5999089	1.00[ASN][1000 genomes]
rs67258059	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73154536	1.00[ASN][1000 genomes]
rs73154574	1.00[ASN][1000 genomes]
rs73170572	1.00[ASN][1000 genomes]
rs73170587	1.00[ASN][1000 genomes]
rs73170592	1.00[ASN][1000 genomes]
rs73170593	1.00[ASN][1000 genomes]
rs73170600	1.00[ASN][1000 genomes]
rs73171909	1.00[ASN][1000 genomes]
rs73171910	1.00[ASN][1000 genomes]
rs73171912	1.00[ASN][1000 genomes]
rs73171913	1.00[ASN][1000 genomes]
rs73171915	1.00[ASN][1000 genomes]
rs73171921	1.00[ASN][1000 genomes]
rs73171926	1.00[ASN][1000 genomes]
rs73171927	1.00[ASN][1000 genomes]
rs73171931	1.00[ASN][1000 genomes]
rs738987	1.00[ASN][1000 genomes]
rs738989	1.00[ASN][1000 genomes]
rs933215	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34291200-34312800	Weak transcription	HepG2	liver
2	chr22:34291800-34313800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:34293800-34315000	Weak transcription	Pancreas	Pancrea
4	chr22:34294200-34310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:34296600-34313400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:34297400-34313800	Weak transcription	Gastric	stomach
7	chr22:34298400-34307000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:34298600-34306800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:34298800-34310000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:34303400-34307600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr22:34303800-34314000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:34304200-34308200	Enhancers	Brain Substantia Nigra	brain
13	chr22:34304200-34308600	Enhancers	Brain Anterior Caudate	brain
14	chr22:34304600-34307400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr22:34304600-34313200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr22:34304800-34306800	Enhancers	Psoas Muscle	Psoas
17	chr22:34305000-34307400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:34305000-34308200	Enhancers	Right Ventricle	heart
19	chr22:34305000-34310800	Weak transcription	Fetal Brain Female	brain
20	chr22:34305000-34311400	Weak transcription	Stomach Mucosa	stomach
21	chr22:34305000-34313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr22:34305200-34306800	Enhancers	Colon Smooth Muscle	Colon
23	chr22:34305200-34307000	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:34305200-34307200	Weak transcription	Brain Angular Gyrus	brain
25	chr22:34305200-34308000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:34305200-34310200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:34305200-34314400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:34305400-34306800	Enhancers	Right Atrium	heart
29	chr22:34305400-34306800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr22:34305400-34307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:34305600-34306800	Enhancers	Stomach Smooth Muscle	stomach
32	chr22:34305600-34307600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr22:34305600-34313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:34305600-34314200	Weak transcription	Aorta	Aorta
35	chr22:34305800-34314000	Weak transcription	Fetal Intestine Small	intestine
36	chr22:34306000-34306800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr22:34306000-34307200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:34306000-34314800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr22:34306200-34306800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:34306200-34306800	Genic enhancers	Fetal Heart	heart
41	chr22:34306200-34307200	Strong transcription	Fetal Intestine Large	intestine
42	chr22:34306200-34307400	Genic enhancers	H1 Cell Line	embryonic stem cell
43	chr22:34306200-34307800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr22:34306200-34308200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr22:34306200-34311800	Weak transcription	Fetal Brain Male	brain
46	chr22:34306200-34312600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr22:34306200-34314200	Weak transcription	Fetal Muscle Leg	muscle
48	chr22:34306400-34307000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:34306400-34307000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:34306400-34307200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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