Variant report

Variant	rs60263546
Chromosome Location	chr4:6960159-6960160
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:6954554..6957687-chr4:6958182..6961347,5	K562	blood:
2	chr4:6942348..6944791-chr4:6958193..6960563,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction
ENSG00000265953	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16839511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16839530	1.00[EUR][1000 genomes]
rs16839553	1.00[EUR][1000 genomes]
rs28655367	1.00[EUR][1000 genomes]
rs3892978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41365350	1.00[AMR][1000 genomes]
rs41394850	1.00[AMR][1000 genomes]
rs58027198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6819148	1.00[EUR][1000 genomes]
rs9992991	1.00[EUR][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	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
2	chr4:6945000-6970200	Weak transcription	Hela-S3	cervix
3	chr4:6945800-6965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:6946600-6969000	Weak transcription	Dnd41	blood
5	chr4:6948600-6962400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:6950400-6963800	Weak transcription	Small Intestine	intestine
7	chr4:6953600-6960600	Enhancers	Fetal Thymus	thymus
8	chr4:6954000-6964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:6954400-6965800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:6954800-6962800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:6955000-6962600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:6955600-6961800	Enhancers	Pancreas	Pancrea
13	chr4:6955800-6976000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:6956000-6961400	Weak transcription	Fetal Brain Female	brain
15	chr4:6956000-6962000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:6956000-6964600	Weak transcription	Right Atrium	heart
17	chr4:6956000-6967000	Weak transcription	Psoas Muscle	Psoas
18	chr4:6956000-6976000	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:6956200-6961000	Weak transcription	Left Ventricle	heart
20	chr4:6956200-6961400	Weak transcription	Brain Substantia Nigra	brain
21	chr4:6956200-6962200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:6956200-6962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:6956200-6962600	Weak transcription	Fetal Stomach	stomach
24	chr4:6956200-6963000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:6956200-6963800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:6956200-6964000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:6956200-6964400	Weak transcription	Adipose Nuclei	Adipose
28	chr4:6956200-6964400	Weak transcription	Colonic Mucosa	Colon
29	chr4:6956200-6964600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:6956200-6964600	Weak transcription	NHLF	lung
31	chr4:6956200-6965000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr4:6956400-6962600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:6956400-6969200	Weak transcription	K562	blood
34	chr4:6956800-6961000	Weak transcription	Fetal Brain Male	brain
35	chr4:6957400-6961000	Weak transcription	Brain Angular Gyrus	brain
36	chr4:6957400-6962600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:6957400-6962600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:6957400-6963200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:6957400-6963800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:6957600-6961000	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:6957600-6962000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:6957600-6962000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:6957600-6962200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:6957600-6962200	Weak transcription	Brain Anterior Caudate	brain
45	chr4:6957600-6962800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:6957600-6963400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:6957600-6963600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:6957600-6963800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:6957600-6970400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:6957600-6973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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