Variant report

Variant	rs28483407
Chromosome Location	chr15:72798098-72798099
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	chr15:72765330..72767624-chr15:72797296..72799310,2	MCF-7	breast:
2	chr15:72791577..72793364-chr15:72797646..72799417,2	K562	blood:

Variant related genes	Relation type
ENSG00000166233	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12324257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2577576	1.00[AMR][1000 genomes]
rs28396210	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451211	1.00[AMR][1000 genomes]
rs28451625	1.00[AMR][1000 genomes]
rs28463280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575961	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28635032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687667	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28703826	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28869264	0.84[AFR][1000 genomes]
rs74021506	1.00[AMR][1000 genomes]
rs74022835	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024328	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
2	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72769600-72832200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:72769800-72805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:72771600-72826000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:72772600-72820800	Weak transcription	Thymus	Thymus
5	chr15:72773000-72817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:72773000-72819600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:72775600-72832800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:72780400-72812400	Weak transcription	HepG2	liver
9	chr15:72782200-72808000	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:72782600-72828400	Weak transcription	K562	blood
11	chr15:72784200-72813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:72784600-72821400	Weak transcription	HUVEC	blood vessel
13	chr15:72785600-72806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:72785800-72808000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:72786000-72807800	Weak transcription	NHEK	skin
16	chr15:72786800-72801200	Weak transcription	Fetal Brain Female	brain
17	chr15:72787200-72803600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:72787600-72801600	Weak transcription	NHDF-Ad	bronchial
19	chr15:72787800-72803400	Weak transcription	GM12878-XiMat	blood
20	chr15:72788600-72798200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:72789200-72799600	Weak transcription	Psoas Muscle	Psoas
22	chr15:72789400-72805200	Weak transcription	Liver	Liver
23	chr15:72789400-72821600	Weak transcription	Small Intestine	intestine
24	chr15:72790000-72804000	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:72790200-72807800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:72790200-72821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:72790400-72804000	Weak transcription	A549	lung
28	chr15:72790600-72814600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:72792200-72805000	Weak transcription	Fetal Kidney	kidney
30	chr15:72792200-72830800	Weak transcription	HSMM	muscle
31	chr15:72792400-72798200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr15:72792400-72799000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:72792400-72801800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:72792400-72814000	Weak transcription	Fetal Thymus	thymus
35	chr15:72792400-72816000	Weak transcription	Placenta	Placenta
36	chr15:72792400-72817400	Weak transcription	Hela-S3	cervix
37	chr15:72792600-72806800	Weak transcription	Fetal Intestine Large	intestine
38	chr15:72792600-72807000	Weak transcription	Primary B cells from cord blood	blood
39	chr15:72793000-72808000	Weak transcription	Fetal Lung	lung
40	chr15:72793000-72814600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:72793200-72831400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:72793400-72801600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:72793600-72812600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:72793600-72813400	Weak transcription	Dnd41	blood
45	chr15:72794200-72806000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:72794200-72833200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:72794400-72831600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr15:72795200-72826000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:72795800-72807800	Weak transcription	Osteobl	bone
50	chr15:72795800-72812800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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