Variant report

Variant	rs6493033
Chromosome Location	chr15:42571252-42571253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42563158..42565885-chr15:42567865..42572400,4	MCF-7	breast:
2	chr15:42568840..42573155-chr15:42578082..42582332,4	K562	blood:
3	chr15:42564172..42566903-chr15:42569265..42571976,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214013	Chromatin interaction
ENSG00000103978	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12437600	0.92[ASN][1000 genomes]
rs12438369	0.84[ASN][1000 genomes]
rs12438509	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440087	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441016	0.94[ASN][1000 genomes]
rs12441642	0.84[ASN][1000 genomes]
rs16972887	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973008	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16973045	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16973060	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2138831	0.86[ASN][1000 genomes]
rs2407707	0.89[ASN][1000 genomes]
rs2412688	1.00[ASN][1000 genomes]
rs28364388	0.84[ASN][1000 genomes]
rs3736099	0.89[ASN][1000 genomes]
rs3743005	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3743007	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3743008	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3825785	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4506867	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4923932	0.89[ASN][1000 genomes]
rs4923945	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4924627	0.89[ASN][1000 genomes]
rs4924630	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4924631	0.86[ASN][1000 genomes]
rs4924644	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924672	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4924673	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4924674	0.84[ASN][1000 genomes]
rs55882551	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56257215	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56670003	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56702977	0.84[ASN][1000 genomes]
rs56987883	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57134130	0.84[ASN][1000 genomes]
rs57393446	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57933952	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57973092	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57976413	1.00[ASN][1000 genomes]
rs58292736	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58313689	0.92[ASN][1000 genomes]
rs58712370	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59094161	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59132828	0.95[ASN][1000 genomes]
rs59138723	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320762	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59893734	0.89[ASN][1000 genomes]
rs59974698	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60443443	0.89[ASN][1000 genomes]
rs60634548	1.00[ASN][1000 genomes]
rs61069354	1.00[ASN][1000 genomes]
rs61133768	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7179203	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7180279	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7181979	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73398938	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73400993	0.89[ASN][1000 genomes]
rs73402707	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403365	1.00[ASN][1000 genomes]
rs73407403	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73407407	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73407488	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409577	0.97[ASN][1000 genomes]
rs8025601	0.95[ASN][1000 genomes]
rs8027016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041951	0.83[AMR][1000 genomes];0.94[ASN][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
5	esv1807328	chr15:42525300-42573278	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42566400-42576000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:42566600-42575000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:42567000-42571400	Weak transcription	Spleen	Spleen
4	chr15:42567000-42578600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:42567200-42571400	Weak transcription	Gastric	stomach
6	chr15:42567200-42573000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:42567200-42577200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:42567200-42577800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:42567200-42583800	Weak transcription	Fetal Kidney	kidney
10	chr15:42567200-42623600	Weak transcription	Fetal Brain Male	brain
11	chr15:42567600-42571400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:42567600-42572400	Weak transcription	Fetal Thymus	thymus
13	chr15:42567600-42573000	Weak transcription	Esophagus	oesophagus
14	chr15:42567600-42578400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:42567600-42579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:42568200-42571400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:42568200-42571600	Weak transcription	Colonic Mucosa	Colon
18	chr15:42568200-42571600	Weak transcription	Fetal Brain Female	brain
19	chr15:42568400-42571400	Weak transcription	Primary T cells from cord blood	blood
20	chr15:42568400-42571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:42568400-42571400	Weak transcription	Aorta	Aorta
22	chr15:42568400-42571400	Weak transcription	Thymus	Thymus
23	chr15:42568400-42574800	Weak transcription	Psoas Muscle	Psoas
24	chr15:42568400-42604600	Weak transcription	NH-A	brain
25	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
26	chr15:42568600-42571400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:42568600-42571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:42568600-42571400	Weak transcription	Brain Angular Gyrus	brain
29	chr15:42568600-42571400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:42568600-42571400	Weak transcription	HMEC	breast
31	chr15:42568600-42571600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:42568600-42571600	Weak transcription	NHLF	lung
33	chr15:42568600-42572000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:42568600-42572600	Weak transcription	Fetal Intestine Small	intestine
35	chr15:42568600-42573000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:42568600-42573000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:42568600-42575000	Weak transcription	A549	lung
38	chr15:42568600-42581200	Weak transcription	HUVEC	blood vessel
39	chr15:42568600-42581400	Weak transcription	Stomach Mucosa	stomach
40	chr15:42568600-42583800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:42568600-42584600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:42568600-42584800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:42568600-42585000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:42568600-42585200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr15:42568600-42587000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:42568600-42587000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr15:42568600-42593000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:42568600-42602600	Weak transcription	Fetal Heart	heart
49	chr15:42568600-42630800	Weak transcription	Dnd41	blood
50	chr15:42568800-42571400	Weak transcription	Primary hematopoietic stem cells	blood

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