Variant report

Variant	rs2294818
Chromosome Location	chr22:28386322-28386323
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	MYC	chr22:28386320-28387364	NB4	blood:	n/a	chr22:28386997-28387006

Variant related genes	Relation type
TTC28	TF binding region
TTC28-AS1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12483793	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12484349	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs135654	1.00[YRI][hapmap]
rs16985722	1.00[CEU][hapmap]
rs16985863	0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17484428	1.00[CEU][hapmap]
rs2076505	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2235713	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267128	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs34564977	0.81[ASN][1000 genomes]
rs5762511	1.00[YRI][hapmap]
rs8137183	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8138623	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	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	nsv522306	chr22:28378472-28402624	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2294818	TTC28-AS1	cis	Whole Blood	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
2	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:28369200-28398400	Weak transcription	Hela-S3	cervix
4	chr22:28369400-28394000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr22:28370400-28387200	Weak transcription	Fetal Kidney	kidney
6	chr22:28371800-28386800	Weak transcription	NHDF-Ad	bronchial
7	chr22:28371800-28395000	Weak transcription	Small Intestine	intestine
8	chr22:28372000-28386400	Weak transcription	HUVEC	blood vessel
9	chr22:28373600-28404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:28373800-28386400	Strong transcription	Fetal Muscle Leg	muscle
11	chr22:28373800-28398200	Strong transcription	Fetal Brain Female	brain
12	chr22:28373800-28404200	Strong transcription	Fetal Stomach	stomach
13	chr22:28373800-28405200	Strong transcription	Fetal Intestine Small	intestine
14	chr22:28374600-28386400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:28377200-28386400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:28377200-28386800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:28377200-28386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:28377200-28387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:28377200-28388600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:28377800-28386400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:28377800-28386800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr22:28377800-28391800	Strong transcription	Fetal Lung	lung
23	chr22:28377800-28398000	Strong transcription	Fetal Intestine Large	intestine
24	chr22:28377800-28398600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:28378000-28396600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:28379000-28387600	Weak transcription	Thymus	Thymus
27	chr22:28379400-28399600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:28379600-28387000	Weak transcription	Colon Smooth Muscle	Colon
29	chr22:28379800-28388200	Weak transcription	Colonic Mucosa	Colon
30	chr22:28380200-28390400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:28380600-28387200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr22:28381000-28388200	Weak transcription	Esophagus	oesophagus
33	chr22:28381400-28388200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:28381600-28393800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:28381800-28412400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:28382000-28388800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:28382200-28386800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr22:28382200-28394000	Weak transcription	Brain Substantia Nigra	brain
39	chr22:28382800-28386400	Weak transcription	K562	blood
40	chr22:28382800-28391800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr22:28382800-28394600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:28383200-28388200	Weak transcription	Gastric	stomach
43	chr22:28383400-28387200	Weak transcription	HepG2	liver
44	chr22:28383400-28387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:28383600-28388000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr22:28384000-28386800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr22:28384000-28390600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:28384000-28405000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr22:28384200-28386800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr22:28384200-28386800	Weak transcription	Osteobl	bone

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