Variant report

Variant	rs2168474
Chromosome Location	chr15:52004250-52004251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52001609..52004491-chr15:52007135..52009891,2	K562	blood:
2	chr15:51999340..52000856-chr15:52003112..52004684,2	K562	blood:
3	chr15:52002992..52006343-chr15:52011753..52015104,3	K562	blood:
4	chr15:52002742..52004739-chr15:52023615..52025636,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259296	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11070863	0.80[ASN][1000 genomes]
rs11631725	0.89[ASN][1000 genomes]
rs11634955	0.83[ASN][1000 genomes]
rs11638106	0.89[ASN][1000 genomes]
rs1456299	0.90[ASN][1000 genomes]
rs1456300	0.90[ASN][1000 genomes]
rs2054166	0.91[ASN][1000 genomes]
rs2305716	0.91[ASN][1000 genomes]
rs2607119	0.86[ASN][1000 genomes]
rs2622775	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28576876	0.83[ASN][1000 genomes]
rs4775968	0.90[ASN][1000 genomes]
rs55982453	0.83[ASN][1000 genomes]
rs60060794	0.84[ASN][1000 genomes]
rs7170980	0.83[ASN][1000 genomes]
rs7171884	0.83[ASN][1000 genomes]
rs744039	0.89[ASN][1000 genomes]
rs8023455	0.84[ASN][1000 genomes]
rs8033234	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
rs2168474	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 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	chr15:51994400-52007400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:51995400-52006800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:51995400-52013200	Weak transcription	Brain Substantia Nigra	brain
16	chr15:51997600-52005200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:51999400-52006200	Weak transcription	K562	blood
18	chr15:51999800-52018200	Weak transcription	Fetal Stomach	stomach
19	chr15:52000000-52013800	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:52000800-52024000	Weak transcription	Gastric	stomach
21	chr15:52001000-52018600	Weak transcription	Pancreas	Pancrea
22	chr15:52001200-52013000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:52001600-52012000	Weak transcription	Primary B cells from cord blood	blood
24	chr15:52002400-52013600	Strong transcription	Fetal Brain Female	brain
25	chr15:52002800-52016600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:52003400-52013200	Weak transcription	Aorta	Aorta
27	chr15:52003800-52006400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:52004000-52004400	Strong transcription	Brain Cingulate Gyrus	brain
29	chr15:52004000-52004600	Strong transcription	Brain Angular Gyrus	brain
30	chr15:52004000-52008400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr15:52004000-52013400	Strong transcription	Brain Germinal Matrix	brain

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