Variant report

Variant	rs56040637
Chromosome Location	chr6:13696531-13696532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13693992..13697221-chr6:13708052..13711450,4	MCF-7	breast:
2	chr6:13614250..13617216-chr6:13693640..13696546,2	MCF-7	breast:
3	chr6:13691306..13693864-chr6:13695080..13696699,2	K562	blood:
4	chr6:13688886..13690711-chr6:13696299..13698751,3	K562	blood:
5	chr6:13682568..13684729-chr6:13695509..13697981,2	K562	blood:
6	chr6:13628211..13630270-chr6:13695494..13698366,2	K562	blood:
7	chr6:13682312..13686994-chr6:13694386..13698370,5	K562	blood:
8	chr6:13693617..13697413-chr6:13709395..13713836,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261071	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13198067	1.00[AFR][1000 genomes]
rs13209220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13215835	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34778758	1.00[AFR][1000 genomes]
rs62387431	1.00[AFR][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 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	chr6:13670000-13701600	Weak transcription	Esophagus	oesophagus
2	chr6:13677800-13699200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:13679000-13699800	Weak transcription	Pancreas	Pancrea
4	chr6:13679000-13700400	Weak transcription	Right Ventricle	heart
5	chr6:13679000-13708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:13679200-13696800	Weak transcription	Brain Germinal Matrix	brain
7	chr6:13679600-13703400	Weak transcription	HUVEC	blood vessel
8	chr6:13681000-13708600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:13684800-13699800	Strong transcription	Dnd41	blood
10	chr6:13686400-13709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:13686800-13697400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:13688200-13703200	Weak transcription	Lung	lung
13	chr6:13688800-13703200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:13689000-13697600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:13689200-13703200	Weak transcription	Spleen	Spleen
16	chr6:13689800-13697200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:13689800-13698400	Weak transcription	Psoas Muscle	Psoas
18	chr6:13689800-13702400	Weak transcription	Fetal Stomach	stomach
19	chr6:13690400-13707600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:13690600-13707600	Weak transcription	Fetal Kidney	kidney
21	chr6:13690600-13708400	Weak transcription	Aorta	Aorta
22	chr6:13690800-13697200	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:13690800-13703200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:13690800-13703600	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:13691200-13703200	Weak transcription	Brain Anterior Caudate	brain
26	chr6:13691200-13708000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:13692000-13707600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:13692200-13708400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:13692400-13697200	Strong transcription	HepG2	liver
30	chr6:13692400-13703200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:13692600-13699800	Weak transcription	Placenta	Placenta
32	chr6:13692800-13697400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:13692800-13708400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:13693200-13696600	Strong transcription	HMEC	breast
35	chr6:13693200-13699400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:13693200-13702200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:13693800-13699200	Genic enhancers	K562	blood
38	chr6:13693800-13703200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:13694000-13703200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:13694000-13706800	Weak transcription	Fetal Intestine Small	intestine
41	chr6:13694200-13696600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:13694200-13697200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:13694200-13699800	Weak transcription	Left Ventricle	heart
44	chr6:13694400-13699200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:13694400-13699400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:13694400-13702000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr6:13694400-13702200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr6:13694600-13696600	Strong transcription	Primary B cells from cord blood	blood
49	chr6:13694600-13698800	Strong transcription	Fetal Thymus	thymus
50	chr6:13694600-13699200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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