Variant report

Variant	rs2622775
Chromosome Location	chr15:51999970-51999971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51997530..52001140-chr15:52004851..52007449,4	K562	blood:
2	chr15:51997906..52000590-chr15:52024148..52026004,2	MCF-7	breast:
3	chr15:51997400..52000250-chr15:52046573..52049240,2	MCF-7	breast:
4	chr15:51999340..52000856-chr15:52003112..52004684,2	K562	blood:
5	chr15:51985262..51987318-chr15:51998907..52000749,2	K562	blood:
6	chr15:51985613..51987539-chr15:51999474..52001266,2	K562	blood:

Variant related genes	Relation type
ENSG00000259296	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11070863	0.80[ASN][1000 genomes]
rs11631725	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs11634955	0.83[ASN][1000 genomes]
rs11638106	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11638154	0.94[JPT][hapmap]
rs1456299	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1456300	0.90[ASN][1000 genomes]
rs2054166	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2168474	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305716	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2607119	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2652594	0.80[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs28576876	0.83[ASN][1000 genomes]
rs4775968	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55982453	0.83[ASN][1000 genomes]
rs60060794	0.84[ASN][1000 genomes]
rs7167760	0.89[CHB][hapmap];0.81[YRI][hapmap]
rs7170980	0.89[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7171884	0.90[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7183479	0.90[CHB][hapmap];0.82[YRI][hapmap]
rs744039	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8023455	0.90[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs8033234	0.89[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs8034197	0.80[ASN][1000 genomes]
rs8037340	0.80[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	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1035967	chr15:51949866-52008736	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2622775	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51974200-52018800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:51974400-52005200	Weak transcription	Brain Anterior Caudate	brain
3	chr15:51974600-52016400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:51975600-52017200	Weak transcription	Fetal Brain Male	brain
5	chr15:51983000-52013200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:51984800-52018600	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:51990000-52016800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:51991400-52018800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:51992200-52018800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:51992600-52008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:51993600-52006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:51993600-52016800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:51994200-52003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:51994400-52007400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:51995400-52006800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:51995400-52013200	Weak transcription	Brain Substantia Nigra	brain
17	chr15:51997200-52000800	Strong transcription	Fetal Brain Female	brain
18	chr15:51997600-52005200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:51998200-52000800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:51998400-52000000	Enhancers	Colon Smooth Muscle	Colon
21	chr15:51998400-52000200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr15:51998400-52004000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:51998800-52000400	Enhancers	Rectal Smooth Muscle	rectum
24	chr15:51998800-52004000	Weak transcription	Brain Angular Gyrus	brain
25	chr15:51998800-52004000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:51999200-52001600	Strong transcription	Brain Germinal Matrix	brain
27	chr15:51999400-52000000	Enhancers	NHDF-Ad	bronchial
28	chr15:51999400-52000800	Enhancers	Fetal Intestine Large	intestine
29	chr15:51999400-52000800	Enhancers	Fetal Muscle Leg	muscle
30	chr15:51999400-52001000	Enhancers	Ovary	ovary
31	chr15:51999400-52006200	Weak transcription	K562	blood
32	chr15:51999600-52000200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr15:51999600-52000600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr15:51999600-52001000	Enhancers	Fetal Intestine Small	intestine
35	chr15:51999800-52000000	Enhancers	Gastric	stomach
36	chr15:51999800-52000000	Enhancers	Pancreas	Pancrea
37	chr15:51999800-52000000	Enhancers	HSMM	muscle
38	chr15:51999800-52000400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr15:51999800-52000600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:51999800-52018200	Weak transcription	Fetal Stomach	stomach

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