Variant report

Variant	rs470100
Chromosome Location	chr22:28386620-28386621
allele	A/G
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
2	BHLHE40	chr22:28386502-28387249	K562	blood:	n/a	chr22:28386634-28386650
3	MAX	chr22:28386505-28387307	K562	blood:	n/a	chr22:28386997-28387006
4	ELF1	chr22:28386421-28386675	K562	blood:	n/a	n/a
5	E2F6	chr22:28386547-28386760	K562	blood:	n/a	n/a
6	HMGN3	chr22:28386536-28386671	K562	blood:	n/a	n/a
7	MYC	chr22:28386619-28386641	K562	blood:	n/a	n/a
8	MAX	chr22:28386439-28387358	NB4	blood:	n/a	chr22:28386997-28387006

No.	Distal block	Cell Line	Cell type
1	chr22:28386557..28389416-chr22:28392270..28394268,2	MCF-7	breast:
2	chr22:28386554..28387584-chr22:28405047..28405963,3	MCF-7	breast:
3	chr22:28386424..28391096-chr22:28391178..28396307,7	MCF-7	breast:
4	chr22:28314687..28317374-chr22:28386537..28389209,3	MCF-7	breast:

Variant related genes	Relation type
TTC28-AS1	TF binding region
TTC28	TF binding region
ENSG00000100154	Chromatin interaction
ENSG00000180957	Chromatin interaction
ENSG00000264073	Chromatin interaction
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs118839	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12171034	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs138631	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs138638	0.83[CHB][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs138650	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs138657	0.81[EUR][1000 genomes]
rs138675	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs138683	0.82[JPT][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs138685	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1548235	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2038158	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2092054	0.89[ASN][1000 genomes]
rs2267121	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs3747141	0.82[CHB][hapmap]
rs4140571	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs470105	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752667	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762416	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5762418	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997319	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs6005671	0.86[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs720621	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs73425788	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs738451	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7625	0.85[ASN][1000 genomes]
rs957601	0.81[AMR][1000 genomes];0.84[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

No data

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	chr22:28373600-28404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:28373800-28398200	Strong transcription	Fetal Brain Female	brain
10	chr22:28373800-28404200	Strong transcription	Fetal Stomach	stomach
11	chr22:28373800-28405200	Strong transcription	Fetal Intestine Small	intestine
12	chr22:28377200-28386800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:28377200-28386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:28377200-28387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:28377200-28388600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:28377800-28386800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr22:28377800-28391800	Strong transcription	Fetal Lung	lung
18	chr22:28377800-28398000	Strong transcription	Fetal Intestine Large	intestine
19	chr22:28377800-28398600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:28378000-28396600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:28379000-28387600	Weak transcription	Thymus	Thymus
22	chr22:28379400-28399600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:28379600-28387000	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:28379800-28388200	Weak transcription	Colonic Mucosa	Colon
25	chr22:28380200-28390400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:28380600-28387200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:28381000-28388200	Weak transcription	Esophagus	oesophagus
28	chr22:28381400-28388200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:28381600-28393800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr22:28381800-28412400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:28382000-28388800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:28382200-28386800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr22:28382200-28394000	Weak transcription	Brain Substantia Nigra	brain
34	chr22:28382800-28391800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr22:28382800-28394600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:28383200-28388200	Weak transcription	Gastric	stomach
37	chr22:28383400-28387200	Weak transcription	HepG2	liver
38	chr22:28383400-28387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr22:28383600-28388000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr22:28384000-28386800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:28384000-28390600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:28384000-28405000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:28384200-28386800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr22:28384200-28386800	Weak transcription	Osteobl	bone
45	chr22:28384200-28387800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:28384200-28390600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:28384200-28399400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr22:28384400-28387000	Weak transcription	Fetal Thymus	thymus
49	chr22:28384400-28392600	Strong transcription	Brain Germinal Matrix	brain
50	chr22:28384600-28397600	Strong transcription	Ovary	ovary

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