Variant report

Variant	rs8038243
Chromosome Location	chr15:40868607-40868608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40867638..40870164-chr15:40881425..40883040,2	K562	blood:
2	chr15:40867311..40870142-chr15:40875469..40877107,2	K562	blood:
3	chr15:40866258..40868658-chr15:40873477..40876647,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs14363	1.00[EUR][1000 genomes]
rs55984256	1.00[EUR][1000 genomes]
rs56010221	1.00[EUR][1000 genomes]
rs56020318	1.00[EUR][1000 genomes]
rs56195430	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56908156	1.00[EUR][1000 genomes]
rs57134155	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58042425	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58870954	1.00[EUR][1000 genomes]
rs58903833	1.00[EUR][1000 genomes]
rs61579851	1.00[EUR][1000 genomes]
rs61668695	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61678895	1.00[EUR][1000 genomes]
rs6492943	1.00[EUR][1000 genomes]
rs6492946	1.00[EUR][1000 genomes]
rs6492948	1.00[EUR][1000 genomes]
rs6492949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7162308	1.00[EUR][1000 genomes]
rs7164094	1.00[EUR][1000 genomes]
rs7165233	1.00[EUR][1000 genomes]
rs7165670	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168197	1.00[EUR][1000 genomes]
rs7173079	1.00[EUR][1000 genomes]
rs7173239	1.00[EUR][1000 genomes]
rs7173685	0.84[AFR][1000 genomes]
rs7175153	1.00[EUR][1000 genomes]
rs7176418	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7182052	1.00[EUR][1000 genomes]
rs73383123	1.00[EUR][1000 genomes]
rs73383129	1.00[EUR][1000 genomes]
rs73385108	1.00[EUR][1000 genomes]
rs73385110	1.00[EUR][1000 genomes]
rs73385112	1.00[EUR][1000 genomes]
rs73385114	1.00[EUR][1000 genomes]
rs74011172	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74011173	1.00[EUR][1000 genomes]
rs74011174	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8023956	1.00[EUR][1000 genomes]
rs8025846	1.00[EUR][1000 genomes]
rs8033915	1.00[EUR][1000 genomes]
rs8034169	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8037881	1.00[EUR][1000 genomes]
rs8039298	1.00[EUR][1000 genomes]
rs8040231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9672893	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40862800-40875200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:40863000-40870200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:40863000-40875000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:40863000-40875000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:40863200-40868800	Weak transcription	Fetal Heart	heart
6	chr15:40863200-40869000	Weak transcription	Fetal Brain Male	brain
7	chr15:40864000-40868800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr15:40865800-40875000	Weak transcription	Fetal Lung	lung
9	chr15:40866000-40870000	Weak transcription	NH-A	brain
10	chr15:40866000-40874800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:40866400-40869000	Weak transcription	Fetal Kidney	kidney
12	chr15:40866400-40874800	Weak transcription	Colonic Mucosa	Colon
13	chr15:40866400-40876600	Weak transcription	HSMMtube	muscle
14	chr15:40866400-40878200	Weak transcription	Brain Angular Gyrus	brain
15	chr15:40866600-40868800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:40866600-40869600	Weak transcription	Fetal Stomach	stomach
17	chr15:40866600-40870000	Weak transcription	Gastric	stomach
18	chr15:40866600-40870200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:40866600-40870600	Weak transcription	Esophagus	oesophagus
20	chr15:40866600-40871400	Weak transcription	Thymus	Thymus
21	chr15:40866600-40873600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:40866600-40873800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:40866600-40873800	Weak transcription	Fetal Intestine Small	intestine
24	chr15:40866600-40874600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:40866600-40874800	Weak transcription	Pancreas	Pancrea
26	chr15:40866600-40874800	Weak transcription	A549	lung
27	chr15:40866600-40875000	Weak transcription	Lung	lung
28	chr15:40866600-40875000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:40866600-40875200	Weak transcription	Spleen	Spleen
30	chr15:40866600-40875200	Weak transcription	HSMM	muscle
31	chr15:40866600-40881800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:40866600-40881800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:40866600-40881800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:40866800-40869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:40866800-40870000	Weak transcription	HUVEC	blood vessel
36	chr15:40866800-40871000	Weak transcription	HepG2	liver
37	chr15:40866800-40874800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:40866800-40875200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:40866800-40875200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:40866800-40875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:40867000-40868800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:40867000-40868800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:40867000-40869000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:40867000-40869000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:40867000-40870000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:40867000-40870800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:40867000-40874800	Weak transcription	Osteobl	bone
48	chr15:40867000-40875200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:40867200-40869000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:40867200-40869400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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