Variant report

Variant	rs988670
Chromosome Location	chr22:33018287-33018288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33013961..33016702-chr22:33017273..33018854,2	MCF-7	breast:
2	chr22:33016718..33020351-chr22:33021844..33025503,4	K562	blood:
3	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16990857	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs16990872	0.86[JPT][hapmap]
rs2051569	0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2157168	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2710348	0.83[ASN][1000 genomes]
rs2858223	0.86[JPT][hapmap]
rs3827336	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs5754174	0.81[EUR][1000 genomes]
rs67485432	0.80[ASN][1000 genomes]
rs8135117	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8136042	0.99[ASN][1000 genomes]
rs9609603	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609608	0.86[JPT][hapmap]
rs9619283	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9621508	0.92[CEU][hapmap];0.81[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9621513	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9621515	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9621516	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33012400-33018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33014200-33022200	Weak transcription	Small Intestine	intestine
3	chr22:33014400-33019800	Weak transcription	Brain Angular Gyrus	brain
4	chr22:33015000-33019800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:33016000-33020000	Weak transcription	Liver	Liver
6	chr22:33017000-33018600	Enhancers	Lung	lung
7	chr22:33017000-33019600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:33017000-33020200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:33017000-33020600	Enhancers	Fetal Kidney	kidney
10	chr22:33017000-33021000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:33017000-33021000	Enhancers	Fetal Muscle Leg	muscle
12	chr22:33017000-33021000	Enhancers	Fetal Stomach	stomach
13	chr22:33017000-33022600	Enhancers	Fetal Lung	lung
14	chr22:33017000-33022600	Enhancers	Right Atrium	heart
15	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
16	chr22:33017000-33025800	Enhancers	Spleen	Spleen
17	chr22:33017000-33027200	Enhancers	Placenta	Placenta
18	chr22:33017200-33019000	Enhancers	Fetal Thymus	thymus
19	chr22:33017200-33020600	Enhancers	Colon Smooth Muscle	Colon
20	chr22:33017200-33020800	Enhancers	Ovary	ovary
21	chr22:33017400-33018400	Enhancers	Stomach Mucosa	stomach
22	chr22:33017400-33019000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr22:33017400-33019600	Enhancers	Fetal Intestine Large	intestine
24	chr22:33017400-33020000	Enhancers	Fetal Heart	heart
25	chr22:33017400-33020600	Enhancers	Colonic Mucosa	Colon
26	chr22:33017400-33020600	Enhancers	Right Ventricle	heart
27	chr22:33017400-33020600	Enhancers	NHLF	lung
28	chr22:33017400-33021000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr22:33017600-33018400	Enhancers	Aorta	Aorta
30	chr22:33017600-33018600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:33017600-33018600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr22:33017600-33019000	Enhancers	Duodenum Mucosa	Duodenum
33	chr22:33017600-33019000	Enhancers	K562	blood
34	chr22:33017600-33019200	Flanking Active TSS	HepG2	liver
35	chr22:33017600-33019800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:33017600-33020000	Enhancers	Rectal Smooth Muscle	rectum
37	chr22:33017600-33020200	Enhancers	Fetal Intestine Small	intestine
38	chr22:33017600-33020400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:33017600-33020400	Enhancers	Brain Hippocampus Middle	brain
40	chr22:33017800-33018400	Enhancers	A549	lung
41	chr22:33017800-33018600	Flanking Active TSS	NHDF-Ad	bronchial
42	chr22:33017800-33019000	Enhancers	Brain Anterior Caudate	brain
43	chr22:33017800-33019200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr22:33017800-33019200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr22:33017800-33019200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:33017800-33019400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr22:33017800-33020200	Enhancers	Brain Substantia Nigra	brain
48	chr22:33017800-33020400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:33017800-33020400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr22:33017800-33020400	Enhancers	HSMM	muscle

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