Variant report

Variant	rs16986849
Chromosome Location	chr22:29326603-29326604
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	chr22:29325211..29329451-chr22:29330662..29333324,4	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16986954	1.00[AMR][1000 genomes]
rs2078540	1.00[ASW][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29317800-29329400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:29320400-29328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:29320600-29327600	Weak transcription	Esophagus	oesophagus
6	chr22:29320600-29330800	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:29320600-29332200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr22:29321000-29339600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:29322000-29336600	Weak transcription	NHEK	skin
10	chr22:29322200-29333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:29322400-29329600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:29323600-29329400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr22:29324000-29335400	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:29324800-29329000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:29325000-29326800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:29325000-29327000	Enhancers	Brain Cingulate Gyrus	brain
17	chr22:29325000-29327800	Enhancers	HepG2	liver
18	chr22:29325200-29326800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr22:29325200-29327200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr22:29325200-29328600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:29325200-29328800	Enhancers	Gastric	stomach
22	chr22:29325200-29330000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr22:29325200-29330200	Enhancers	Fetal Kidney	kidney
24	chr22:29325400-29326800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr22:29325400-29331200	Enhancers	Liver	Liver
26	chr22:29325600-29327000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr22:29325600-29328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr22:29325600-29331200	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:29325600-29331600	Enhancers	Fetal Intestine Small	intestine
30	chr22:29325800-29326800	Enhancers	A549	lung
31	chr22:29325800-29328400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:29325800-29329400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:29325800-29334200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:29326200-29327000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:29326200-29327000	Enhancers	HUVEC	blood vessel
36	chr22:29326200-29327000	Enhancers	K562	blood
37	chr22:29326200-29328600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:29326200-29330200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr22:29326200-29331600	Enhancers	Duodenum Mucosa	Duodenum
40	chr22:29326400-29326800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr22:29326400-29326800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:29326400-29326800	Enhancers	Lung	lung
43	chr22:29326400-29326800	Enhancers	NH-A	brain
44	chr22:29326400-29327000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:29326400-29327000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:29326400-29327000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr22:29326400-29327000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:29326400-29327000	Enhancers	Left Ventricle	heart
49	chr22:29326400-29327000	Enhancers	Ovary	ovary
50	chr22:29326400-29327200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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