Variant report

Variant	rs6006271
Chromosome Location	chr22:30222018-30222019
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
2	chr22:30153529..30155692-chr22:30219778..30222690,2	K562	blood:

Variant related genes	Relation type
ENSG00000200976	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28584892	1.00[AFR][1000 genomes]
rs28609003	1.00[AFR][1000 genomes]
rs5997517	1.00[AFR][1000 genomes]
rs5997526	1.00[AFR][1000 genomes]
rs5997537	1.00[AFR][1000 genomes]
rs5997557	1.00[AFR][1000 genomes]
rs6006233	1.00[AFR][1000 genomes]
rs6006273	1.00[AFR][1000 genomes]
rs6006283	1.00[AFR][1000 genomes]
rs6006284	1.00[AFR][1000 genomes]
rs6006311	1.00[AFR][1000 genomes]
rs6006313	1.00[AFR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
3	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
4	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
5	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr22:30195400-30222200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:30197000-30222200	Strong transcription	Dnd41	blood
16	chr22:30203600-30233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:30208800-30231000	Strong transcription	Brain Germinal Matrix	brain
18	chr22:30208800-30231200	Strong transcription	Lung	lung
19	chr22:30208800-30233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:30209000-30227600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:30209800-30233600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:30213600-30223200	Weak transcription	Esophagus	oesophagus
23	chr22:30213600-30226000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr22:30215000-30230800	Strong transcription	Fetal Brain Female	brain
25	chr22:30215200-30233200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:30216400-30226200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr22:30218000-30225000	Strong transcription	Fetal Intestine Large	intestine
28	chr22:30218000-30230600	Strong transcription	Fetal Thymus	thymus
29	chr22:30218000-30231000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr22:30218200-30232200	Strong transcription	Fetal Intestine Small	intestine
31	chr22:30218400-30222200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:30218400-30222200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr22:30218400-30222200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:30218400-30222200	Strong transcription	GM12878-XiMat	blood
35	chr22:30218400-30222600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:30218400-30223400	Strong transcription	Fetal Muscle Leg	muscle
37	chr22:30218400-30225800	Weak transcription	Brain Angular Gyrus	brain
38	chr22:30218400-30233000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr22:30218600-30226000	Strong transcription	Liver	Liver
40	chr22:30218600-30230400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:30218600-30233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:30218800-30223000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:30219000-30223400	Weak transcription	Right Atrium	heart
44	chr22:30219000-30232000	Weak transcription	Fetal Brain Male	brain
45	chr22:30219600-30226000	Weak transcription	A549	lung
46	chr22:30219600-30233400	Weak transcription	Fetal Kidney	kidney
47	chr22:30220000-30222200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr22:30220000-30222200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr22:30220000-30222200	Strong transcription	HSMM	muscle
50	chr22:30220000-30223600	Strong transcription	Left Ventricle	heart

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