Variant report

Variant	rs7183109
Chromosome Location	chr15:44682898-44682899
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	POLR2A	chr15:44682806-44683034	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000259499	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10152710	0.83[EUR][1000 genomes]
rs1021800	0.83[EUR][1000 genomes]
rs10467977	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12591178	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591581	0.83[EUR][1000 genomes]
rs12591811	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12592995	0.89[EUR][1000 genomes]
rs12593125	0.89[EUR][1000 genomes]
rs12593325	0.83[EUR][1000 genomes]
rs12593686	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12593943	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594110	0.83[EUR][1000 genomes]
rs12594139	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594167	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12594621	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594645	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594746	0.89[EUR][1000 genomes]
rs12595484	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17551416	0.83[EUR][1000 genomes]
rs2055061	0.89[EUR][1000 genomes]
rs2288341	0.83[EUR][1000 genomes]
rs2288342	0.89[EUR][1000 genomes]
rs2303577	0.83[EUR][1000 genomes]
rs2412883	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2412909	0.89[EUR][1000 genomes]
rs2433350	0.89[EUR][1000 genomes]
rs2555353	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2556566	0.89[EUR][1000 genomes]
rs2556567	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28508235	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28561508	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2899113	0.83[EUR][1000 genomes]
rs35555389	0.89[EUR][1000 genomes]
rs3784565	0.89[EUR][1000 genomes]
rs3784567	0.89[EUR][1000 genomes]
rs3809471	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3816928	0.89[EUR][1000 genomes]
rs3986142	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3986143	0.89[EUR][1000 genomes]
rs4415978	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4477677	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4577056	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924746	0.88[ASN][1000 genomes]
rs57270586	0.89[EUR][1000 genomes]
rs58956090	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59230801	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59997416	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60003667	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs60399672	0.89[EUR][1000 genomes]
rs61185650	0.89[EUR][1000 genomes]
rs61234123	0.89[EUR][1000 genomes]
rs61258861	0.89[EUR][1000 genomes]
rs61278540	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61329003	0.89[EUR][1000 genomes]
rs61501839	0.89[EUR][1000 genomes]
rs6493103	0.83[EUR][1000 genomes]
rs7162671	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162802	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7163529	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7164709	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7166278	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7166945	0.89[EUR][1000 genomes]
rs7167752	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7169333	0.89[EUR][1000 genomes]
rs7170248	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7172106	0.89[EUR][1000 genomes]
rs7175200	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178318	0.89[EUR][1000 genomes]
rs7179894	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7181772	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8023453	0.89[EUR][1000 genomes]
rs8024623	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8024805	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8025727	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8025876	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8025955	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8026945	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8027036	0.89[EUR][1000 genomes]
rs8028509	0.89[EUR][1000 genomes]
rs8028907	0.83[EUR][1000 genomes]
rs8032079	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8037395	0.83[EUR][1000 genomes]
rs883943	0.89[EUR][1000 genomes]
rs9672237	0.89[EUR][1000 genomes]
rs9673085	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9806725	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	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
6	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	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
9	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv904178	chr15:44609796-44724287	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv977853	chr15:44672110-44694938	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44641000-44696000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:44641200-44696000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr15:44647600-44685800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:44647600-44686400	Weak transcription	NHEK	skin
5	chr15:44647600-44692400	Weak transcription	Fetal Kidney	kidney
6	chr15:44647600-44710200	Weak transcription	Left Ventricle	heart
7	chr15:44647800-44692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:44648000-44689400	Weak transcription	Gastric	stomach
9	chr15:44655800-44718400	Weak transcription	Fetal Brain Female	brain
10	chr15:44657000-44719000	Weak transcription	Spleen	Spleen
11	chr15:44660200-44706200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:44661400-44707000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:44661400-44708400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:44661400-44718400	Weak transcription	Fetal Brain Male	brain
15	chr15:44661400-44718600	Weak transcription	Fetal Lung	lung
16	chr15:44661800-44685600	Weak transcription	Psoas Muscle	Psoas
17	chr15:44661800-44718200	Weak transcription	Brain Angular Gyrus	brain
18	chr15:44662600-44684400	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:44663000-44717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:44663400-44700600	Weak transcription	Right Ventricle	heart
21	chr15:44663400-44718800	Weak transcription	Aorta	Aorta
22	chr15:44665200-44685800	Weak transcription	Primary T cells from cord blood	blood
23	chr15:44665200-44709400	Weak transcription	Pancreas	Pancrea
24	chr15:44667000-44685800	Weak transcription	Placenta	Placenta
25	chr15:44667000-44695000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:44667000-44718000	Weak transcription	Thymus	Thymus
27	chr15:44667200-44686200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:44667200-44690000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:44667200-44710200	Weak transcription	Fetal Intestine Large	intestine
30	chr15:44667200-44719000	Weak transcription	Lung	lung
31	chr15:44669800-44687800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:44670800-44686000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:44672000-44683200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:44672600-44684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:44672600-44690200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:44672600-44699000	Weak transcription	HMEC	breast
37	chr15:44672600-44700600	Weak transcription	Adipose Nuclei	Adipose
38	chr15:44672800-44683000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:44672800-44686200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:44672800-44696600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:44673000-44695800	Weak transcription	Small Intestine	intestine
42	chr15:44673200-44696600	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:44673800-44696800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:44673800-44700200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:44673800-44709400	Weak transcription	Primary B cells from cord blood	blood
46	chr15:44673800-44718200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:44673800-44718400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:44674000-44683000	Weak transcription	Fetal Thymus	thymus
49	chr15:44674200-44712000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr15:44674600-44686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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