Variant report

Variant	rs7170248
Chromosome Location	chr15:44815923-44815924
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	chr15:44718927..44720457-chr15:44815051..44817603,2	K562	blood:
2	chr15:44810339..44812133-chr15:44815167..44817583,2	K562	blood:

Variant related genes	Relation type
ENSG00000137770	Chromatin interaction
ENSG00000259595	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10152710	0.94[EUR][1000 genomes]
rs1021800	0.94[EUR][1000 genomes]
rs10467977	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12591178	1.00[EUR][1000 genomes]
rs12591581	0.94[EUR][1000 genomes]
rs12591811	0.94[EUR][1000 genomes]
rs12592995	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593125	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593325	0.94[EUR][1000 genomes]
rs12593686	0.94[EUR][1000 genomes]
rs12593943	0.94[EUR][1000 genomes]
rs12594110	0.94[EUR][1000 genomes]
rs12594139	0.94[EUR][1000 genomes]
rs12594167	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12594621	0.94[EUR][1000 genomes]
rs12594645	0.94[EUR][1000 genomes]
rs12594746	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595484	0.94[EUR][1000 genomes]
rs17551416	0.94[EUR][1000 genomes]
rs2055061	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288341	0.94[EUR][1000 genomes]
rs2288342	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2303577	0.94[EUR][1000 genomes]
rs2303578	0.87[EUR][1000 genomes]
rs2412883	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412909	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2433350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2555353	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556562	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2556566	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556567	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28508235	0.94[EUR][1000 genomes]
rs28561508	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899113	0.94[EUR][1000 genomes]
rs2899119	0.83[AFR][1000 genomes]
rs35555389	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784565	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784567	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809471	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3816928	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3986142	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3986143	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4415978	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4477677	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4577056	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57270586	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58956090	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59230801	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59997416	0.94[EUR][1000 genomes]
rs60003667	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60399672	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61185650	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61234123	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61258861	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61278540	0.94[EUR][1000 genomes]
rs61329003	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61501839	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493103	0.82[EUR][1000 genomes]
rs7162671	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7162802	0.94[EUR][1000 genomes]
rs7163287	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7163529	0.94[EUR][1000 genomes]
rs7164709	0.94[EUR][1000 genomes]
rs7166278	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7166945	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7167752	0.94[EUR][1000 genomes]
rs7167870	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7169333	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7172106	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7175200	0.94[EUR][1000 genomes]
rs7178318	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7179894	0.94[EUR][1000 genomes]
rs7181772	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7183109	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8023453	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8024623	0.94[EUR][1000 genomes]
rs8024805	0.94[EUR][1000 genomes]
rs8025727	0.94[EUR][1000 genomes]
rs8025876	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025955	0.94[EUR][1000 genomes]
rs8026945	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8027036	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8028509	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028907	0.82[EUR][1000 genomes]
rs8032079	0.94[EUR][1000 genomes]
rs8037395	0.82[EUR][1000 genomes]
rs883943	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9672237	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9673085	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9806725	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
7	nsv904180	chr15:44783700-44820054	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
4	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:44754600-44816200	Weak transcription	Brain Angular Gyrus	brain
6	chr15:44757000-44827400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:44775800-44820200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:44778000-44827800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:44778000-44827800	Weak transcription	Psoas Muscle	Psoas
10	chr15:44779800-44824200	Weak transcription	Gastric	stomach
11	chr15:44779800-44827800	Weak transcription	Aorta	Aorta
12	chr15:44783200-44819400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:44783200-44827800	Weak transcription	NHLF	lung
14	chr15:44783600-44828000	Weak transcription	HSMMtube	muscle
15	chr15:44783800-44816400	Weak transcription	HMEC	breast
16	chr15:44790400-44827200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:44790800-44827800	Weak transcription	Small Intestine	intestine
18	chr15:44791000-44818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr15:44791800-44826800	Weak transcription	Brain Germinal Matrix	brain
20	chr15:44795000-44820400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:44795200-44820200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:44796200-44819000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:44796200-44827200	Weak transcription	K562	blood
24	chr15:44796200-44827800	Weak transcription	Brain Anterior Caudate	brain
25	chr15:44796200-44828000	Weak transcription	Brain Substantia Nigra	brain
26	chr15:44796400-44827800	Weak transcription	Esophagus	oesophagus
27	chr15:44796400-44827800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:44797000-44828000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:44798800-44828000	Weak transcription	A549	lung
30	chr15:44800800-44828000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:44803600-44817000	Weak transcription	Fetal Brain Male	brain
32	chr15:44805400-44820200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:44806000-44820000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:44806000-44820200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:44806200-44819800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:44806200-44820400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:44806400-44818000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:44806600-44818800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr15:44806600-44820000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:44807000-44817800	Strong transcription	Fetal Intestine Large	intestine
41	chr15:44807000-44820800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:44807400-44828200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:44807800-44827200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:44809600-44817600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:44809600-44818000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr15:44809600-44818400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:44810000-44818000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:44810400-44819400	Strong transcription	Dnd41	blood
49	chr15:44810600-44817800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr15:44810600-44820000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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