Variant report

Variant	rs35814864
Chromosome Location	chr22:29285148-29285149
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	chr22:29283926..29288290-chr22:29291343..29295207,5	K562	blood:
2	chr22:29278902..29281359-chr22:29283717..29285829,4	K562	blood:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13053879	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13058031	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986825	0.82[EUR][1000 genomes]
rs16986838	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs16987024	0.81[EUR][1000 genomes]
rs16987027	0.81[EUR][1000 genomes]
rs2269578	0.81[EUR][1000 genomes]
rs2301428	0.81[EUR][1000 genomes]
rs2347448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28458474	0.81[EUR][1000 genomes]
rs2881634	0.84[EUR][1000 genomes]
rs34206997	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35017742	0.81[EUR][1000 genomes]
rs35050306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752802	0.81[EUR][1000 genomes]
rs5752803	0.81[EUR][1000 genomes]
rs5752806	0.81[EUR][1000 genomes]
rs5752811	0.82[EUR][1000 genomes]
rs5752816	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs5762812	0.81[EUR][1000 genomes]
rs5762814	0.81[EUR][1000 genomes]
rs5762816	0.81[EUR][1000 genomes]
rs5762817	0.81[EUR][1000 genomes]
rs5762818	0.81[EUR][1000 genomes]
rs5762819	0.81[EUR][1000 genomes]
rs5762820	0.81[EUR][1000 genomes]
rs5762821	0.81[EUR][1000 genomes]
rs5762823	0.81[EUR][1000 genomes]
rs5762855	0.86[AFR][1000 genomes]
rs5762857	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs59203761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59224170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60468718	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs66471734	0.81[EUR][1000 genomes]
rs71327329	0.87[EUR][1000 genomes]
rs73170679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739196	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs916332	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9625595	0.86[AFR][1000 genomes]
rs9625600	0.86[AFR][1000 genomes]
rs9625612	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	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
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29281000-29287600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr22:29281200-29287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:29281200-29288000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:29281400-29285600	Weak transcription	Ovary	ovary
5	chr22:29281400-29287200	Weak transcription	Left Ventricle	heart
6	chr22:29281400-29287400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:29281400-29287400	Weak transcription	Psoas Muscle	Psoas
8	chr22:29281400-29288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29281400-29288000	Weak transcription	Lung	lung
10	chr22:29281400-29290400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:29281400-29290400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:29281400-29290400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:29281400-29290400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:29281400-29294600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:29281400-29295200	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:29281600-29292600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:29282000-29290400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:29282000-29291400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:29282200-29285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:29282200-29287000	Weak transcription	Fetal Heart	heart
21	chr22:29282200-29287400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:29282200-29287600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr22:29282200-29287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:29282200-29288000	Weak transcription	Right Ventricle	heart
25	chr22:29282200-29288200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:29282200-29290400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:29282200-29295000	Weak transcription	Brain Substantia Nigra	brain
28	chr22:29282400-29287600	Weak transcription	HMEC	breast
29	chr22:29282400-29287800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:29282400-29288000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:29282400-29290400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:29282800-29285400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr22:29283000-29285600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:29283000-29287600	Weak transcription	NHEK	skin
35	chr22:29283000-29287800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr22:29283000-29288000	Weak transcription	Esophagus	oesophagus
37	chr22:29283000-29288000	Weak transcription	Gastric	stomach
38	chr22:29283200-29286000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr22:29283200-29288200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr22:29283400-29288000	Weak transcription	K562	blood
41	chr22:29283400-29294200	Weak transcription	Aorta	Aorta
42	chr22:29283400-29299000	Weak transcription	Fetal Stomach	stomach
43	chr22:29283600-29287000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:29283600-29287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:29283600-29287400	Weak transcription	Small Intestine	intestine
46	chr22:29283800-29286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:29283800-29290200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:29284000-29287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:29284000-29287800	Weak transcription	Fetal Intestine Small	intestine
50	chr22:29284200-29288200	Weak transcription	Colon Smooth Muscle	Colon

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