Variant report

Variant	rs16986435
Chromosome Location	chr22:28840306-28840307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr22:28840201-28840360	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TTC28	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10483149	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16986240	0.91[YRI][hapmap]
rs16986374	0.97[AFR][1000 genomes]
rs16986390	0.97[AFR][1000 genomes]
rs16986392	0.97[AFR][1000 genomes]
rs16986403	0.97[AFR][1000 genomes]
rs16986405	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16986408	0.97[AFR][1000 genomes]
rs16986409	0.97[AFR][1000 genomes]
rs16986410	0.97[AFR][1000 genomes]
rs16986419	0.90[AFR][1000 genomes]
rs16986422	0.97[AFR][1000 genomes]
rs16986425	0.97[AFR][1000 genomes]
rs16986433	0.80[AFR][1000 genomes]
rs16986438	0.80[AFR][1000 genomes]
rs16986449	1.00[AFR][1000 genomes]
rs16986454	1.00[AFR][1000 genomes]
rs16986458	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16986471	1.00[AFR][1000 genomes]
rs16986480	1.00[AFR][1000 genomes]
rs16986487	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16986494	1.00[AFR][1000 genomes]
rs16986542	1.00[AFR][1000 genomes]
rs16986546	1.00[AFR][1000 genomes]
rs17881716	0.93[AFR][1000 genomes]
rs2103601	1.00[YRI][hapmap]
rs57188662	0.84[AFR][1000 genomes]
rs58065411	1.00[AFR][1000 genomes]
rs58858940	1.00[AFR][1000 genomes]
rs59463287	1.00[AFR][1000 genomes]
rs60435869	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28839600-28844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:28839600-28844600	Weak transcription	K562	blood
3	chr22:28839800-28840400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:28839800-28840600	Enhancers	Brain Germinal Matrix	brain
5	chr22:28839800-28840600	Weak transcription	Esophagus	oesophagus
6	chr22:28839800-28840800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr22:28839800-28840800	Enhancers	Adipose Nuclei	Adipose
8	chr22:28839800-28840800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr22:28839800-28840800	Enhancers	NHDF-Ad	bronchial
10	chr22:28839800-28841200	Enhancers	Rectal Smooth Muscle	rectum
11	chr22:28839800-28842200	Weak transcription	Fetal Intestine Large	intestine
12	chr22:28839800-28842400	Weak transcription	Fetal Intestine Small	intestine
13	chr22:28839800-28842400	Weak transcription	Psoas Muscle	Psoas
14	chr22:28839800-28842400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr22:28839800-28843200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:28839800-28843600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:28839800-28844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:28839800-28844600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:28839800-28844600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:28839800-28861200	Weak transcription	Ovary	ovary
21	chr22:28840000-28840400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr22:28840000-28840400	Enhancers	Fetal Brain Female	brain
23	chr22:28840000-28840400	Weak transcription	NHLF	lung
24	chr22:28840000-28840800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:28840000-28840800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr22:28840000-28840800	Enhancers	Dnd41	blood
27	chr22:28840000-28841000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:28840000-28841200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:28840000-28844600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:28840000-28844600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:28840000-28844600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr22:28840000-28844600	Weak transcription	Fetal Kidney	kidney
33	chr22:28840000-28844800	Weak transcription	HUVEC	blood vessel
34	chr22:28840000-28845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:28840000-28847000	Weak transcription	Fetal Lung	lung
36	chr22:28840000-28849600	Weak transcription	Fetal Brain Male	brain

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