Variant report

Variant	rs1474627
Chromosome Location	chr6:144660542-144660543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr6:144660514-144660697	K562	blood:	n/a	n/a
2	SPI1	chr6:144660366-144660859	HL-60	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144646379..144648634-chr6:144659334..144661793,2	K562	blood:
2	chr6:144656543..144658129-chr6:144660023..144661876,2	K562	blood:
3	chr6:144658220..144661109-chr6:144661857..144663367,2	K562	blood:
4	chr6:144652090..144653631-chr6:144659810..144661477,2	MCF-7	breast:

No data

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1474628	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56154144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58684675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58756941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60104486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61112175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6570622	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6941232	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591120	0.91[AFR][1000 genomes]
rs73591137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592834	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592848	0.87[AMR][1000 genomes]
rs7748561	0.87[AMR][1000 genomes]
rs7749006	0.84[AFR][1000 genomes];1.00[AMR][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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144643800-144663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:144648200-144661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
4	chr6:144652000-144661000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:144652000-144668200	Weak transcription	Aorta	Aorta
6	chr6:144653000-144661200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:144653400-144661200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:144653400-144662800	Weak transcription	Osteobl	bone
10	chr6:144653400-144665200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:144653600-144661400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:144653600-144662000	Weak transcription	NHLF	lung
13	chr6:144653600-144665000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:144655400-144662000	Weak transcription	HUVEC	blood vessel
15	chr6:144655800-144661200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:144656000-144661400	Weak transcription	Brain Germinal Matrix	brain
17	chr6:144656000-144664200	Weak transcription	Fetal Kidney	kidney
18	chr6:144656000-144665200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:144656000-144665200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:144656000-144668400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:144656000-144670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:144656600-144664800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:144656800-144661400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:144657000-144661000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:144657000-144662000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:144657000-144670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:144657200-144661200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:144657200-144664000	Enhancers	Primary B cells from cord blood	blood
29	chr6:144657200-144664800	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:144657200-144665200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:144657400-144660800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:144657400-144661200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:144657400-144662600	Weak transcription	HSMM	muscle
34	chr6:144657400-144665000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:144657600-144661200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:144657600-144661200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:144657600-144662800	Weak transcription	Brain Substantia Nigra	brain
38	chr6:144657800-144666400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:144658200-144661200	Weak transcription	Colonic Mucosa	Colon
40	chr6:144658200-144662600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:144658200-144664400	Weak transcription	Fetal Intestine Large	intestine
42	chr6:144658200-144668200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:144658400-144660800	Weak transcription	Fetal Heart	heart
44	chr6:144658400-144661000	Weak transcription	Gastric	stomach
45	chr6:144658400-144661000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:144658400-144661200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:144658400-144661200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:144658400-144661200	Weak transcription	Esophagus	oesophagus
49	chr6:144658400-144661200	Weak transcription	Lung	lung
50	chr6:144658400-144661200	Weak transcription	Ovary	ovary

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