Variant report

Variant	rs1446240
Chromosome Location	chr15:59296491-59296492
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59288116..59291528-chr15:59295015..59297520,3	K562	blood:
2	chr15:59279164..59282094-chr15:59295397..59298837,3	K562	blood:
3	chr15:59293658..59297788-chr15:59301854..59304801,3	K562	blood:

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10518991	0.85[CEU][hapmap]
rs10518992	0.85[CEU][hapmap]
rs10518996	0.88[YRI][hapmap]
rs11071401	0.89[CEU][hapmap]
rs11630160	0.85[CEU][hapmap]
rs11631540	0.95[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs11635820	0.82[YRI][hapmap]
rs11636723	0.85[CEU][hapmap]
rs11637077	0.85[CEU][hapmap]
rs11856640	0.85[CEU][hapmap]
rs11858989	0.85[CEU][hapmap]
rs12595482	0.80[CEU][hapmap]
rs12910580	0.95[CEU][hapmap]
rs12914723	0.85[CEU][hapmap]
rs1665051	0.92[LWK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs17302045	0.85[CEU][hapmap]
rs173214	0.85[CEU][hapmap]
rs1867757	1.00[YRI][hapmap]
rs2121236	0.92[YRI][hapmap]
rs2592092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28641638	0.85[CEU][hapmap]
rs34884391	0.84[ASN][1000 genomes]
rs4531679	0.92[YRI][hapmap]
rs6494064	0.92[YRI][hapmap]
rs6494069	0.88[YRI][hapmap]
rs7175490	0.96[YRI][hapmap]
rs8029153	0.87[YRI][hapmap]
rs9302206	0.82[YRI][hapmap]

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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59308800	Weak transcription	Esophagus	oesophagus
2	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
3	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:59281400-59305800	Weak transcription	Brain Substantia Nigra	brain
5	chr15:59281400-59323200	Weak transcription	Ovary	ovary
6	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
7	chr15:59281600-59311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:59281800-59297800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
10	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:59282000-59305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:59282000-59323000	Weak transcription	Fetal Lung	lung
13	chr15:59282000-59323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:59282000-59323200	Weak transcription	Fetal Kidney	kidney
15	chr15:59282400-59296800	Weak transcription	NH-A	brain
16	chr15:59282400-59297400	Weak transcription	HMEC	breast
17	chr15:59282400-59305400	Weak transcription	Fetal Heart	heart
18	chr15:59282400-59308600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:59282400-59323200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:59282400-59323400	Weak transcription	NHLF	lung
21	chr15:59282600-59297600	Weak transcription	NHDF-Ad	bronchial
22	chr15:59282600-59306400	Weak transcription	Brain Angular Gyrus	brain
23	chr15:59282800-59297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:59283600-59305600	Weak transcription	Stomach Mucosa	stomach
25	chr15:59283800-59297200	Weak transcription	NHEK	skin
26	chr15:59283800-59305600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:59283800-59313400	Weak transcription	Right Atrium	heart
28	chr15:59283800-59329000	Weak transcription	Pancreas	Pancrea
29	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
31	chr15:59284000-59296600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:59284000-59305600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:59284200-59299000	Weak transcription	Spleen	Spleen
34	chr15:59284400-59297400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:59284400-59297800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:59284600-59298600	Weak transcription	Hela-S3	cervix
37	chr15:59284600-59305600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:59284600-59308800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:59284600-59323000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:59284800-59297800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:59284800-59308800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:59284800-59323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:59285000-59308800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr15:59285000-59323000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:59285000-59328000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:59285200-59296600	Weak transcription	Placenta	Placenta
47	chr15:59285200-59297400	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:59285200-59323000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:59285200-59323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:59286000-59305200	Weak transcription	Colon Smooth Muscle	Colon

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