Variant report

Variant	rs60249621
Chromosome Location	chr15:40688131-40688132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40685492..40688209-chr15:40696991..40699594,2	MCF-7	breast:
2	chr15:40674079..40683588-chr15:40684131..40692224,17	K562	blood:
3	chr15:40674079..40676370-chr15:40686249..40688248,2	K562	blood:
4	chr15:40685663..40687587-chr15:40688013..40690529,2	MCF-7	breast:
5	chr15:40687439..40689879-chr15:40742501..40744433,2	K562	blood:
6	chr15:40681101..40682776-chr15:40686570..40689339,2	MCF-7	breast:
7	chr15:40685564..40689200-chr15:40689211..40693750,5	K562	blood:

Variant related genes	Relation type
ENSG00000128928	Chromatin interaction
ENSG00000128944	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56793772	1.00[AMR][1000 genomes]
rs56864155	0.92[AFR][1000 genomes]
rs61298638	1.00[AMR][1000 genomes]
rs73383108	1.00[AMR][1000 genomes]
rs73383142	0.85[AFR][1000 genomes]
rs73383148	0.85[AFR][1000 genomes]
rs73397400	0.92[AFR][1000 genomes]
rs8033668	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40676000-40689800	Weak transcription	Right Atrium	heart
2	chr15:40676000-40697400	Weak transcription	Small Intestine	intestine
3	chr15:40676200-40690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:40676200-40697200	Weak transcription	Stomach Mucosa	stomach
5	chr15:40676800-40688400	Strong transcription	Fetal Thymus	thymus
6	chr15:40677000-40688600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:40677800-40688800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:40678200-40688400	Strong transcription	Fetal Muscle Leg	muscle
9	chr15:40679200-40688400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:40679400-40697400	Weak transcription	Brain Substantia Nigra	brain
11	chr15:40679800-40689800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:40679800-40690200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:40679800-40690200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:40679800-40690400	Weak transcription	Pancreas	Pancrea
15	chr15:40679800-40697200	Weak transcription	Ovary	ovary
16	chr15:40679800-40697600	Weak transcription	Esophagus	oesophagus
17	chr15:40680000-40689800	Weak transcription	Fetal Heart	heart
18	chr15:40682000-40689400	Weak transcription	Psoas Muscle	Psoas
19	chr15:40682200-40689000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:40682200-40690400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:40684000-40690400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:40684000-40690400	Weak transcription	GM12878-XiMat	blood
23	chr15:40684200-40690400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:40684600-40690400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:40685000-40697000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:40685000-40697200	Weak transcription	Spleen	Spleen
27	chr15:40685800-40691200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:40686000-40690400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:40686000-40690800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:40686000-40697000	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:40686000-40697200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:40686200-40688400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:40686200-40689400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:40686200-40689800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:40686200-40690000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:40686200-40690200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr15:40686200-40690200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:40686200-40690400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:40686200-40690400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr15:40686200-40690800	Weak transcription	Aorta	Aorta
41	chr15:40686200-40696800	Weak transcription	HepG2	liver
42	chr15:40686200-40697000	Weak transcription	Adipose Nuclei	Adipose
43	chr15:40686200-40697000	Weak transcription	Liver	Liver
44	chr15:40686200-40697000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr15:40686200-40697000	Weak transcription	Fetal Brain Male	brain
46	chr15:40686200-40697000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:40686200-40697200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:40686200-40697200	Weak transcription	Brain Angular Gyrus	brain
49	chr15:40686200-40697200	Weak transcription	Brain Anterior Caudate	brain
50	chr15:40686200-40697200	Weak transcription	Brain Inferior Temporal Lobe	brain

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