Variant report

Variant	rs7744487
Chromosome Location	chr6:114288328-114288329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:114288289-114288422	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114287247..114289431-chr6:114295805..114297955,2	K562	blood:
2	chr6:114287867..114290622-chr6:114290692..114293112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228624	TF binding region
ENSG00000228624	Chromatin interaction
ENSG00000196591	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17792118	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169506	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35598148	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62415876	0.87[ASN][1000 genomes]
rs62415904	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62415906	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62415909	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415915	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62415916	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62415923	1.00[ASN][1000 genomes]
rs73548638	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748936	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488293	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488294	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv520419	chr6:114285253-114306614	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr6:114253000-114289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:114253400-114290600	Weak transcription	Aorta	Aorta
3	chr6:114258600-114291000	Weak transcription	Lung	lung
4	chr6:114258800-114289800	Weak transcription	Spleen	Spleen
5	chr6:114259000-114289200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:114264800-114289800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:114266000-114289600	Weak transcription	Esophagus	oesophagus
8	chr6:114266400-114289800	Weak transcription	Pancreas	Pancrea
9	chr6:114267400-114288800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:114267400-114289000	Weak transcription	Brain Angular Gyrus	brain
11	chr6:114267400-114289200	Weak transcription	Ovary	ovary
12	chr6:114267400-114289800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:114270400-114289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:114273600-114289200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:114275400-114289200	Weak transcription	Left Ventricle	heart
16	chr6:114276000-114289200	Weak transcription	A549	lung
17	chr6:114276000-114289200	Weak transcription	HMEC	breast
18	chr6:114276000-114289400	Weak transcription	NHEK	skin
19	chr6:114276000-114289800	Weak transcription	NHLF	lung
20	chr6:114276800-114289000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:114277000-114288400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:114277000-114288600	Weak transcription	Fetal Intestine Small	intestine
23	chr6:114277000-114289200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:114277000-114289200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:114277000-114289400	Weak transcription	Fetal Stomach	stomach
26	chr6:114277000-114289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:114277200-114289000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:114277200-114289200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:114277400-114288800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:114277400-114288800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:114277400-114289600	Weak transcription	Thymus	Thymus
32	chr6:114277400-114290200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:114277600-114289800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:114277800-114289800	Weak transcription	HSMMtube	muscle
35	chr6:114278000-114289200	Weak transcription	Liver	Liver
36	chr6:114278600-114289800	Weak transcription	Placenta	Placenta
37	chr6:114278800-114289800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:114279000-114289200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:114279000-114289800	Weak transcription	Brain Anterior Caudate	brain
40	chr6:114279400-114289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:114279400-114289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:114279600-114288600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:114279600-114288600	Weak transcription	HepG2	liver
44	chr6:114279600-114289000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:114279600-114289000	Weak transcription	Adipose Nuclei	Adipose
46	chr6:114279600-114289200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:114279600-114289200	Weak transcription	Fetal Intestine Large	intestine
48	chr6:114279600-114290000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:114279800-114289000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:114279800-114289600	Weak transcription	Primary hematopoietic stem cells	blood

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