Variant report

Variant	rs57191378
Chromosome Location	chr15:41070260-41070261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41068398..41070390-chr15:41097835..41100828,2	K562	blood:
2	chr15:41037589..41040458-chr15:41068418..41070751,2	K562	blood:
3	chr15:41045448..41048031-chr15:41068434..41070678,2	MCF-7	breast:
4	chr15:41069195..41071599-chr15:41075080..41078053,2	MCF-7	breast:
5	chr15:41037003..41039062-chr15:41068615..41070670,2	MCF-7	breast:
6	chr15:41068210..41071185-chr15:41097995..41100691,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137824	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000166140	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16970995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971013	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16971015	0.85[AMR][1000 genomes]
rs1814415	1.00[AMR][1000 genomes]
rs2004043	0.85[AMR][1000 genomes]
rs2412552	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28460049	1.00[AMR][1000 genomes]
rs28480346	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28498351	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28718778	0.85[AMR][1000 genomes]
rs4343248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57380807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58036350	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61317135	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61405952	1.00[AMR][1000 genomes]
rs7165694	0.85[AMR][1000 genomes]
rs7166719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398512	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73398517	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398522	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs934783	0.90[AFR][1000 genomes];0.85[AMR][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	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41057400-41070800	Weak transcription	Psoas Muscle	Psoas
2	chr15:41058600-41072400	Strong transcription	Placenta	Placenta
3	chr15:41059200-41072400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:41059800-41072600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:41060000-41072800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:41062200-41072600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:41062200-41072600	Strong transcription	Fetal Brain Female	brain
8	chr15:41062200-41072600	Strong transcription	Right Ventricle	heart
9	chr15:41062200-41072600	Strong transcription	Stomach Smooth Muscle	stomach
10	chr15:41062200-41072800	Strong transcription	Fetal Stomach	stomach
11	chr15:41062400-41072600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:41062400-41079400	Weak transcription	Right Atrium	heart
13	chr15:41062600-41072400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:41062600-41072600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr15:41062600-41072600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:41062600-41072600	Strong transcription	Brain Germinal Matrix	brain
17	chr15:41062600-41079000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:41062800-41072600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:41062800-41072600	Strong transcription	Spleen	Spleen
20	chr15:41062800-41072600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:41063000-41072400	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr15:41063000-41072600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:41063200-41072400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:41063400-41071800	Strong transcription	Left Ventricle	heart
25	chr15:41063400-41072400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr15:41063400-41072400	Strong transcription	Pancreas	Pancrea
27	chr15:41063400-41072600	Strong transcription	Colonic Mucosa	Colon
28	chr15:41063600-41072400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:41063600-41072600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:41063600-41072600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr15:41063800-41072200	Strong transcription	Colon Smooth Muscle	Colon
32	chr15:41063800-41072200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:41063800-41072600	Strong transcription	Primary T cells from cord blood	blood
34	chr15:41063800-41072600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr15:41064000-41072400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:41064000-41072400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:41064000-41072400	Strong transcription	Dnd41	blood
38	chr15:41064000-41072600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:41064000-41072600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:41064200-41072200	Strong transcription	Brain Hippocampus Middle	brain
41	chr15:41064200-41072400	Strong transcription	Fetal Intestine Large	intestine
42	chr15:41064200-41072400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr15:41064200-41072800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:41064200-41076200	Strong transcription	Fetal Intestine Small	intestine
45	chr15:41064400-41072000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:41064400-41072600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:41064600-41072400	Strong transcription	Brain Cingulate Gyrus	brain
48	chr15:41064600-41072800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:41064800-41072200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:41064800-41072200	Strong transcription	Fetal Lung	lung

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