Variant report

Variant	rs6006229
Chromosome Location	chr22:30123010-30123011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30122754..30125379-chr22:30128810..30131334,3	MCF-7	breast:
2	chr22:30120187..30123071-chr22:30140004..30142315,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1001318	0.88[EUR][1000 genomes]
rs13057811	0.89[EUR][1000 genomes]
rs2232903	0.91[EUR][1000 genomes]
rs34347404	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997507	0.88[EUR][1000 genomes]
rs5997508	0.89[EUR][1000 genomes]
rs5997509	0.88[EUR][1000 genomes]
rs60102307	0.81[ASN][1000 genomes]
rs71331211	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv471194	chr22:30103476-30128380	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv471195	chr22:30103476-30128380	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30115800-30126200	Weak transcription	Gastric	stomach
2	chr22:30116600-30126400	Weak transcription	Aorta	Aorta
3	chr22:30117000-30137200	Weak transcription	HSMM	muscle
4	chr22:30117200-30126600	Weak transcription	Pancreas	Pancrea
5	chr22:30117200-30133800	Weak transcription	Right Atrium	heart
6	chr22:30117600-30124600	Weak transcription	Spleen	Spleen
7	chr22:30119000-30126400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:30120600-30123600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:30121000-30125400	Weak transcription	Ovary	ovary
10	chr22:30121000-30126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:30121400-30123200	Enhancers	K562	blood
12	chr22:30121400-30126800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:30122000-30126800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:30122200-30123200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr22:30122200-30123600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:30122200-30123600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:30122200-30126200	Weak transcription	Liver	Liver
18	chr22:30122400-30123200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr22:30122400-30123200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:30122400-30123200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:30122400-30123600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr22:30122400-30123800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr22:30122400-30129400	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:30122600-30123800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:30122600-30126000	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:30122800-30123200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr22:30122800-30123200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:30122800-30123200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:30122800-30123200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr22:30122800-30123200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:30122800-30123200	Enhancers	Brain Anterior Caudate	brain
32	chr22:30122800-30123200	Enhancers	Fetal Brain Male	brain
33	chr22:30122800-30123200	Enhancers	NH-A	brain
34	chr22:30122800-30123200	Bivalent Enhancer	Osteobl	bone
35	chr22:30122800-30126600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr22:30122800-30126600	Weak transcription	Left Ventricle	heart
37	chr22:30123000-30123200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:30123000-30123200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr22:30123000-30123200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr22:30123000-30123200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:30123000-30123200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:30123000-30123200	Enhancers	Brain Cingulate Gyrus	brain
43	chr22:30123000-30123200	Enhancers	Brain Germinal Matrix	brain
44	chr22:30123000-30123200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr22:30123000-30123200	Enhancers	Brain Substantia Nigra	brain
46	chr22:30123000-30123200	Enhancers	Colonic Mucosa	Colon
47	chr22:30123000-30123200	Enhancers	Esophagus	oesophagus
48	chr22:30123000-30123200	Enhancers	Fetal Brain Female	brain
49	chr22:30123000-30123200	Enhancers	Fetal Intestine Large	intestine
50	chr22:30123000-30123200	Enhancers	Fetal Intestine Small	intestine

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