Variant report

Variant	rs7172190
Chromosome Location	chr15:55696995-55696996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55696852..55699665-chr15:55712534..55714960,2	K562	blood:
2	chr15:55609398..55612428-chr15:55693917..55698358,4	K562	blood:
3	chr15:55610040..55612568-chr15:55696345..55698141,2	MCF-7	breast:
4	chr15:55687284..55689317-chr15:55695984..55697982,2	MCF-7	breast:
5	chr15:55686108..55691081-chr15:55692026..55698243,11	K562	blood:

Variant related genes	Relation type
ENSG00000225973	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000260916	Chromatin interaction
ENSG00000069974	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12914468	0.81[AFR][1000 genomes]
rs7169473	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv904243	chr15:55627528-55734158	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv520799	chr15:55645661-55760522	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv904244	chr15:55687969-55770911	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55611800-55699400	Weak transcription	Colonic Mucosa	Colon
2	chr15:55637000-55699600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:55668200-55699800	Weak transcription	Spleen	Spleen
4	chr15:55676000-55699400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:55676400-55697200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:55676400-55699400	Weak transcription	Right Ventricle	heart
7	chr15:55676800-55697600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:55678200-55699400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:55681000-55697400	Weak transcription	Gastric	stomach
10	chr15:55681000-55699200	Weak transcription	Lung	lung
11	chr15:55681000-55699600	Weak transcription	Fetal Stomach	stomach
12	chr15:55681200-55699400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:55681800-55699600	Weak transcription	NHLF	lung
14	chr15:55687400-55699400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:55687400-55699400	Weak transcription	Fetal Brain Female	brain
16	chr15:55687400-55699600	Weak transcription	Left Ventricle	heart
17	chr15:55689800-55699600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:55691800-55699400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr15:55693800-55697000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr15:55694000-55698000	Enhancers	Liver	Liver
21	chr15:55694600-55698800	Enhancers	Hela-S3	cervix
22	chr15:55694800-55697000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:55694800-55697000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:55694800-55697200	Enhancers	HepG2	liver
25	chr15:55694800-55697600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:55694800-55698800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:55695000-55697000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr15:55695000-55697000	Enhancers	Fetal Intestine Large	intestine
29	chr15:55695000-55697200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:55695000-55699400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr15:55695000-55699600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr15:55695000-55699600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr15:55695200-55697200	Enhancers	Adipose Nuclei	Adipose
34	chr15:55695200-55699200	Weak transcription	Small Intestine	intestine
35	chr15:55695400-55697000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr15:55695600-55697200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:55695600-55699400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr15:55695800-55697000	Enhancers	Primary T cells from cord blood	blood
39	chr15:55695800-55697000	Enhancers	Brain Hippocampus Middle	brain
40	chr15:55695800-55697000	Enhancers	HSMMtube	muscle
41	chr15:55695800-55697000	Flanking Active TSS	K562	blood
42	chr15:55696000-55699000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:55696000-55699000	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:55696000-55699400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:55696200-55697000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr15:55696200-55697800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:55696200-55698600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:55696200-55699000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr15:55696200-55699400	Weak transcription	Fetal Lung	lung
50	chr15:55696200-55699400	Weak transcription	NHEK	skin

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