Variant report

Variant	rs11704023
Chromosome Location	chr22:33239710-33239711
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33232248..33234896-chr22:33237867..33240280,2	MCF-7	breast:
2	22:33235139-33240300..22:33339333-33353583	K562	blood:
3	22:33235139-33240300..22:33262063-33266567	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11703156	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11703906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs137501	1.00[CHB][hapmap]
rs1427377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes]
rs1427378	1.00[CHB][hapmap]
rs2040437	1.00[CHB][hapmap]
rs2267184	1.00[CHB][hapmap]
rs2267185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap]
rs5749512	1.00[JPT][hapmap]
rs5749524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5754250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5754266	1.00[JPT][hapmap]
rs5754280	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5754281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5754288	1.00[JPT][hapmap]
rs7289098	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs737088	1.00[JPT][hapmap]
rs80689	1.00[CHB][hapmap]
rs933255	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
2	chr22:33217800-33248600	Weak transcription	Gastric	stomach
3	chr22:33222600-33240400	Genic enhancers	Adipose Nuclei	Adipose
4	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:33227600-33248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:33228000-33245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:33231200-33245400	Weak transcription	NHLF	lung
14	chr22:33231800-33240400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:33232200-33239800	Genic enhancers	Fetal Stomach	stomach
16	chr22:33232400-33245600	Weak transcription	HSMMtube	muscle
17	chr22:33235200-33243800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:33235400-33241600	Weak transcription	Esophagus	oesophagus
19	chr22:33235600-33245200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:33235800-33241800	Weak transcription	Colonic Mucosa	Colon
21	chr22:33236000-33240600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:33236000-33240600	Weak transcription	Brain Substantia Nigra	brain
23	chr22:33236200-33240000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:33236200-33241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:33236200-33241800	Strong transcription	Osteobl	bone
26	chr22:33236200-33245600	Weak transcription	Aorta	Aorta
27	chr22:33236200-33253800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:33236200-33259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:33236400-33244200	Enhancers	Right Atrium	heart
30	chr22:33237000-33242600	Weak transcription	Ovary	ovary
31	chr22:33237000-33245600	Weak transcription	Fetal Intestine Small	intestine
32	chr22:33237400-33241400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:33237400-33241600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:33237400-33241600	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:33237400-33245600	Weak transcription	Fetal Intestine Large	intestine
36	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
37	chr22:33237600-33241600	Weak transcription	Brain Hippocampus Middle	brain
38	chr22:33237600-33242200	Weak transcription	Fetal Lung	lung
39	chr22:33237800-33242000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:33238200-33240200	Strong transcription	Fetal Muscle Leg	muscle
41	chr22:33238200-33241400	Weak transcription	Placenta	Placenta
42	chr22:33238400-33240000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:33238400-33259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:33238600-33242000	Enhancers	Fetal Heart	heart
45	chr22:33238600-33242600	Weak transcription	Fetal Kidney	kidney
46	chr22:33238800-33239800	Enhancers	Spleen	Spleen
47	chr22:33238800-33240200	Genic enhancers	Right Ventricle	heart
48	chr22:33238800-33240400	Strong transcription	HSMM	muscle
49	chr22:33238800-33244800	Weak transcription	NH-A	brain
50	chr22:33239000-33239800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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