Variant report

Variant	rs57067744
Chromosome Location	chr6:149353053-149353054
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149352485..149353192-chr6:149403141..149403642,2	MCF-7	breast:
2	chr6:149351823..149355344-chr6:149638842..149641991,4	MCF-7	breast:
3	chr6:149352653..149356079-chr6:149835245..149838856,4	MCF-7	breast:
4	chr6:149351574..149354764-chr6:149837931..149839815,3	MCF-7	breast:
5	chr6:149351101..149353287-chr6:149403711..149405332,2	MCF-7	breast:
6	chr6:149349779..149353985-chr6:149637379..149639962,5	MCF-7	breast:
7	chr6:149352329..149353452-chr6:149381767..149382867,3	MCF-7	breast:
8	chr6:149351690..149353369-chr6:149357308..149360096,2	K562	blood:
9	chr6:149352728..149354619-chr6:150038400..150040013,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131023	Chromatin interaction
ENSG00000055208	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000252244	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11155614	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11155617	0.86[EUR][1000 genomes]
rs3798593	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57955571	0.86[EUR][1000 genomes]
rs6903661	0.95[ASN][1000 genomes]
rs9373584	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9373585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9377189	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9386242	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9386243	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9399680	0.86[EUR][1000 genomes]
rs9404017	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149334000-149353400	Weak transcription	Spleen	Spleen
3	chr6:149336200-149353200	Weak transcription	Esophagus	oesophagus
4	chr6:149336200-149358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:149336400-149354000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:149336800-149353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:149337200-149353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:149337600-149358000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:149339400-149353200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:149339400-149364600	Weak transcription	Lung	lung
11	chr6:149339800-149353200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:149341000-149353400	Weak transcription	Aorta	Aorta
13	chr6:149341000-149365400	Weak transcription	Right Ventricle	heart
14	chr6:149341400-149353200	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:149342400-149353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:149343200-149358000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:149344000-149357200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:149344000-149357400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:149344600-149353400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:149344600-149353600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:149344600-149353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:149344600-149357800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:149344800-149354800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:149344800-149358000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:149345000-149355200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:149345400-149353600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:149345400-149362000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:149345600-149355000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:149345600-149358000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:149346000-149353600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:149347800-149356800	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:149348000-149367400	Weak transcription	Primary B cells from cord blood	blood
33	chr6:149349800-149353400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:149349800-149354400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr6:149349800-149354800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:149350200-149357600	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:149350400-149353200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:149350400-149353200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:149350400-149353400	Weak transcription	Adipose Nuclei	Adipose
40	chr6:149350400-149353400	Weak transcription	Brain Anterior Caudate	brain
41	chr6:149350400-149353400	Weak transcription	Brain Substantia Nigra	brain
42	chr6:149350400-149353400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:149350400-149354000	Weak transcription	Fetal Intestine Small	intestine
44	chr6:149350400-149358000	Weak transcription	Fetal Kidney	kidney
45	chr6:149351400-149354000	Enhancers	Fetal Thymus	thymus
46	chr6:149351800-149354800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:149351800-149355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:149351800-149355400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:149352000-149353200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:149352000-149354000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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