Variant report

Variant	rs7290117
Chromosome Location	chr22:29450856-29450857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29429778..29432047-chr22:29449305..29452097,2	K562	blood:
2	chr22:29449716..29451532-chr22:29466925..29469548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16986909	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2294241	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301429	1.00[EUR][1000 genomes]
rs5762924	1.00[JPT][hapmap]
rs5762935	1.00[JPT][hapmap]
rs5997427	1.00[JPT][hapmap]
rs713892	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
2	chr22:29438400-29451800	Strong transcription	Fetal Intestine Small	intestine
3	chr22:29440000-29451400	Weak transcription	Fetal Thymus	thymus
4	chr22:29441000-29451200	Weak transcription	HSMM	muscle
5	chr22:29441000-29457000	Weak transcription	HUVEC	blood vessel
6	chr22:29441200-29458000	Weak transcription	HMEC	breast
7	chr22:29443800-29458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:29444600-29451400	Weak transcription	Fetal Brain Male	brain
9	chr22:29445400-29454400	Weak transcription	Fetal Lung	lung
10	chr22:29445800-29451200	Weak transcription	A549	lung
11	chr22:29446000-29454800	Weak transcription	K562	blood
12	chr22:29446400-29451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:29447200-29451400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29447200-29455000	Weak transcription	Gastric	stomach
15	chr22:29447200-29455800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:29447200-29456600	Weak transcription	Placenta	Placenta
17	chr22:29447200-29457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:29447200-29458200	Weak transcription	Osteobl	bone
19	chr22:29447200-29458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:29447400-29451400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:29447400-29451600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29447400-29452400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:29447400-29452800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:29447400-29452800	Weak transcription	Fetal Intestine Large	intestine
25	chr22:29447400-29453200	Weak transcription	Fetal Brain Female	brain
26	chr22:29447400-29454400	Weak transcription	Aorta	Aorta
27	chr22:29447400-29454800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:29447400-29454800	Weak transcription	Lung	lung
29	chr22:29447400-29455600	Weak transcription	Adipose Nuclei	Adipose
30	chr22:29447400-29455600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:29447400-29458200	Weak transcription	NHEK	skin
32	chr22:29447400-29458400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:29447600-29452400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:29448000-29456400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr22:29448800-29451000	Enhancers	Liver	Liver
36	chr22:29449000-29451400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr22:29449000-29451400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr22:29449000-29452800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr22:29449200-29451400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr22:29449200-29452200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:29449200-29458400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29449400-29451400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr22:29449400-29451800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr22:29449800-29454400	Weak transcription	Fetal Stomach	stomach
45	chr22:29449800-29458200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:29450000-29452800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr22:29450000-29452800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:29450000-29455800	Enhancers	Fetal Muscle Leg	muscle
49	chr22:29450200-29451600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:29450200-29451800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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