Variant report

Variant	rs12628294
Chromosome Location	chr22:30183610-30183611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30183374..30186087-chr22:30189628..30192258,4	MCF-7	breast:
2	chr22:30183192..30183757-chr22:30401302..30401851,2	MCF-7	breast:
3	chr22:30127476..30130014-chr22:30183535..30186061,2	MCF-7	breast:
4	chr22:30182549..30186689-chr22:30188373..30192437,4	K562	blood:
5	chr22:30178054..30179718-chr22:30181967..30184538,2	MCF-7	breast:
6	chr22:30181656..30186213-chr22:30190409..30196916,8	MCF-7	breast:
7	chr22:30183311..30186550-chr22:30186984..30189560,4	MCF-7	breast:
8	chr22:30182549..30185414-chr22:30188242..30189873,2	K562	blood:
9	chr22:30182004..30185271-chr22:30192660..30196046,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12159277	0.84[ASN][1000 genomes]
rs12627866	0.84[ASN][1000 genomes]
rs12628028	0.81[ASN][1000 genomes]
rs12628545	0.81[ASN][1000 genomes]
rs16987142	0.84[ASN][1000 genomes]
rs16988049	0.84[ASN][1000 genomes]
rs17711461	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17711508	0.81[ASN][1000 genomes]
rs2018808	0.84[ASN][1000 genomes]
rs2240364	0.84[ASN][1000 genomes]
rs2240365	0.84[ASN][1000 genomes]
rs2240366	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs249399	0.81[ASN][1000 genomes]
rs249402	0.81[ASN][1000 genomes]
rs28730892	0.84[ASN][1000 genomes]
rs57122143	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5997519	0.84[ASN][1000 genomes]
rs5997524	0.88[ASN][1000 genomes]
rs6006247	0.84[ASN][1000 genomes]
rs6006249	0.84[ASN][1000 genomes]
rs6006250	0.84[ASN][1000 genomes]
rs6006262	0.84[ASN][1000 genomes]
rs60805530	0.85[AMR][1000 genomes]
rs61413958	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61616383	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61736786	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7285660	0.81[ASN][1000 genomes]
rs7285800	0.81[ASN][1000 genomes]
rs73392899	0.84[ASN][1000 genomes]
rs73394814	0.81[ASN][1000 genomes]
rs73394831	0.81[ASN][1000 genomes]
rs737721	0.84[ASN][1000 genomes]
rs737728	0.84[ASN][1000 genomes]
rs740116	0.84[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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30164600-30183800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:30164600-30185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30164600-30188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:30166600-30183800	Weak transcription	Aorta	Aorta
5	chr22:30166800-30183800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:30166800-30184200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:30167200-30184000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr22:30167200-30184000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:30167200-30187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:30167400-30183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:30167400-30183800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:30167400-30185400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
15	chr22:30177000-30189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:30177200-30186000	Weak transcription	Fetal Kidney	kidney
17	chr22:30177400-30184400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:30177600-30183800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:30178200-30184000	Weak transcription	Small Intestine	intestine
21	chr22:30178400-30183800	Weak transcription	Brain Substantia Nigra	brain
22	chr22:30178400-30193000	Weak transcription	A549	lung
23	chr22:30178600-30184400	Weak transcription	Colonic Mucosa	Colon
24	chr22:30178600-30184800	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:30178800-30183800	Weak transcription	Fetal Intestine Large	intestine
26	chr22:30178800-30186000	Weak transcription	K562	blood
27	chr22:30178800-30186000	Weak transcription	NH-A	brain
28	chr22:30179200-30185600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:30180200-30186800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr22:30180800-30183800	Weak transcription	Ovary	ovary
31	chr22:30180800-30187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:30181200-30183800	Enhancers	HepG2	liver
33	chr22:30181200-30183800	Weak transcription	HSMMtube	muscle
34	chr22:30181200-30184000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:30181200-30185400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:30181200-30188200	Weak transcription	Fetal Brain Male	brain
37	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
39	chr22:30181400-30185400	Weak transcription	NHDF-Ad	bronchial
40	chr22:30181400-30185600	Weak transcription	Psoas Muscle	Psoas
41	chr22:30182000-30194600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:30182200-30184400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr22:30182200-30194000	Strong transcription	Fetal Muscle Leg	muscle
44	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
45	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
46	chr22:30182400-30183800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:30182400-30184000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:30182400-30184400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr22:30182400-30184800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:30182400-30184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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