Variant report

Variant	rs6006260
Chromosome Location	chr22:30190699-30190700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30182549..30186689-chr22:30188373..30192437,4	K562	blood:
2	chr22:30189037..30193346-chr22:30193366..30197139,6	MCF-7	breast:
3	chr22:30163331..30165240-chr22:30189698..30191746,2	MCF-7	breast:
4	chr22:30183374..30186087-chr22:30189628..30192258,4	MCF-7	breast:
5	chr22:30189139..30191071-chr22:30192199..30195286,3	K562	blood:
6	chr22:30190305..30192087-chr22:30205014..30207322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184076	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56783715	0.91[ASN][1000 genomes]
rs57014206	0.91[ASN][1000 genomes]
rs58113244	0.91[ASN][1000 genomes]
rs58808486	1.00[ASN][1000 genomes]
rs59172206	0.91[ASN][1000 genomes]
rs59237579	0.91[ASN][1000 genomes]
rs59422664	0.91[ASN][1000 genomes]
rs59698661	1.00[ASN][1000 genomes]
rs59902813	0.91[ASN][1000 genomes]
rs60020246	0.91[ASN][1000 genomes]
rs60670183	1.00[ASN][1000 genomes]
rs60965931	0.91[ASN][1000 genomes]
rs61399074	1.00[ASN][1000 genomes]
rs61432554	0.91[ASN][1000 genomes]
rs7285384	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7288777	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
3	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30178400-30193000	Weak transcription	A549	lung
5	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
7	chr22:30182000-30194600	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:30182200-30194000	Strong transcription	Fetal Muscle Leg	muscle
9	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
10	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
11	chr22:30182400-30192800	Strong transcription	Brain Hippocampus Middle	brain
12	chr22:30182600-30194800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr22:30182800-30192000	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:30182800-30192800	Strong transcription	Fetal Thymus	thymus
15	chr22:30182800-30194400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:30182800-30194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:30182800-30194600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
20	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
21	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
22	chr22:30183000-30191600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr22:30183000-30192600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr22:30183000-30192600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr22:30183000-30192800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr22:30183000-30193000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:30183000-30193000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr22:30183000-30193400	Strong transcription	Osteobl	bone
29	chr22:30183000-30194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:30183000-30194200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:30183000-30194200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:30183000-30194200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:30183000-30194400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:30183000-30194400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:30183000-30194400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:30183200-30192600	Strong transcription	GM12878-XiMat	blood
38	chr22:30183200-30193000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:30183200-30194600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr22:30183200-30197000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr22:30183400-30191200	Strong transcription	Rectal Smooth Muscle	rectum
43	chr22:30183400-30191400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr22:30183400-30192600	Strong transcription	Adipose Nuclei	Adipose
45	chr22:30183400-30194200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:30183400-30194200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:30183400-30194200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
49	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood

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