Variant report

Variant	rs1240647
Chromosome Location	chr5:16576989-16576990
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47647239..47649885-chr5:16575581..16577546,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215424	Chromatin interaction
ENSG00000160285	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10053236	0.80[ASN][1000 genomes]
rs1551936	0.83[ASN][1000 genomes]
rs1991468	0.85[ASN][1000 genomes]
rs1991469	0.85[ASN][1000 genomes]
rs1991470	0.86[ASN][1000 genomes]
rs1991471	0.86[ASN][1000 genomes]
rs1991472	0.86[ASN][1000 genomes]
rs2019248	0.85[ASN][1000 genomes]
rs2019260	0.85[ASN][1000 genomes]
rs2560830	0.85[ASN][1000 genomes]
rs2617422	0.85[ASN][1000 genomes]
rs2617423	0.85[ASN][1000 genomes]
rs2617424	0.85[ASN][1000 genomes]
rs2617425	0.85[ASN][1000 genomes]
rs2617426	0.83[ASN][1000 genomes]
rs31283	0.87[ASN][1000 genomes]
rs31288	0.88[ASN][1000 genomes]
rs6858960	0.82[ASN][1000 genomes]
rs899186	0.85[ASN][1000 genomes]
rs991891	0.85[ASN][1000 genomes]
rs994099	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16543200-16591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:16543600-16589800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:16549200-16580200	Weak transcription	Gastric	stomach
4	chr5:16566000-16580200	Weak transcription	Right Ventricle	heart
5	chr5:16569200-16580200	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:16571400-16587200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:16571400-16588200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:16571600-16580800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:16572200-16578800	Weak transcription	Fetal Heart	heart
10	chr5:16573600-16581200	Weak transcription	Fetal Kidney	kidney
11	chr5:16573800-16585200	Weak transcription	Pancreas	Pancrea
12	chr5:16574200-16585200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:16574800-16577800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:16574800-16578600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:16574800-16583000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:16574800-16589800	Weak transcription	Thymus	Thymus
17	chr5:16575000-16588000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:16575200-16585800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:16575600-16579000	Weak transcription	Left Ventricle	heart
20	chr5:16575600-16580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:16575600-16591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:16575800-16577400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:16575800-16578600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:16575800-16578600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:16575800-16578800	Weak transcription	Psoas Muscle	Psoas
26	chr5:16575800-16579000	Weak transcription	Fetal Brain Male	brain
27	chr5:16575800-16579000	Weak transcription	Fetal Brain Female	brain
28	chr5:16575800-16579200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:16575800-16583000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:16575800-16587600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:16576000-16577000	Weak transcription	HMEC	breast
32	chr5:16576000-16577000	Weak transcription	NHEK	skin
33	chr5:16576000-16577200	Weak transcription	Primary T cells from cord blood	blood
34	chr5:16576000-16577400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:16576000-16577400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:16576000-16577400	Weak transcription	Brain Substantia Nigra	brain
37	chr5:16576000-16577600	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:16576000-16577800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:16576000-16578600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:16576000-16578600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:16576000-16578600	Weak transcription	Brain Angular Gyrus	brain
42	chr5:16576000-16578600	Weak transcription	Brain Germinal Matrix	brain
43	chr5:16576000-16578600	Weak transcription	HSMMtube	muscle
44	chr5:16576000-16578800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:16576000-16578800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:16576000-16578800	Weak transcription	Brain Anterior Caudate	brain
47	chr5:16576000-16579000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:16576000-16582000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:16576000-16587200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:16576200-16577200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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