Variant report

Variant	rs66544404
Chromosome Location	chr7:149418127-149418128
allele	C/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	HMGN3	chr7:149418005-149418643	K562	blood:	n/a	n/a
2	CHD2	chr7:149416995-149418417	GM12878	blood:	n/a	n/a
3	EBF1	chr7:149416935-149418416	GM12878	blood:	n/a	chr7:149417657-149417670 chr7:149417657-149417668 chr7:149417659-149417668 chr7:149417658-149417668
4	MAX	chr7:149418049-149418319	NB4	blood:	n/a	n/a
5	STAT1	chr7:149417962-149418193	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:149418091-149418132	K562	blood:	n/a	n/a
7	BHLHE40	chr7:149417032-149418330	GM12878	blood:	n/a	chr7:149418189-149418205
8	RFX5	chr7:149417300-149418367	SK-N-SH	brain:	n/a	n/a
9	CCNT2	chr7:149417726-149418191	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:149319991..149321797-chr7:149416838..149419034,2	MCF-7	breast:
2	chr7:149415554..149419677-chr7:149423548..149428331,6	K562	blood:

Variant related genes	Relation type
KRBA1	TF binding region
ENSG00000133624	Chromatin interaction
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10227504	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247339	0.95[EUR][1000 genomes]
rs10267965	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952836	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28620634	0.86[ASN][1000 genomes]
rs28737284	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57003278	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67000176	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6966081	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6974985	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149412800-149418600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:149412800-149421400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:149412800-149438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:149413000-149418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:149413000-149418200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:149413000-149424000	Weak transcription	Fetal Kidney	kidney
7	chr7:149413000-149433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:149413200-149418400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:149413200-149421800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:149413200-149426200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:149413200-149432000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:149413200-149433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:149413400-149418200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:149413400-149418200	Weak transcription	Fetal Thymus	thymus
15	chr7:149413400-149418400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:149413400-149418600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:149413400-149419200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:149413400-149423000	Weak transcription	Colonic Mucosa	Colon
19	chr7:149413400-149424600	Weak transcription	HUVEC	blood vessel
20	chr7:149413400-149433400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr7:149413800-149419800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:149414000-149430200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:149414600-149418400	Enhancers	Fetal Heart	heart
24	chr7:149414800-149438800	Weak transcription	Fetal Brain Male	brain
25	chr7:149415800-149418200	Enhancers	Left Ventricle	heart
26	chr7:149415800-149421800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:149416000-149418200	Genic enhancers	Stomach Smooth Muscle	stomach
28	chr7:149416000-149418400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:149416000-149418400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:149416000-149418600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:149416000-149418600	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr7:149416000-149418800	Genic enhancers	Fetal Muscle Leg	muscle
33	chr7:149416000-149431200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:149416000-149431400	Strong transcription	Ovary	ovary
35	chr7:149416000-149431600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:149416000-149431800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:149416000-149432000	Strong transcription	Fetal Intestine Small	intestine
38	chr7:149416000-149432400	Strong transcription	Primary T cells from cord blood	blood
39	chr7:149416000-149432800	Strong transcription	Fetal Brain Female	brain
40	chr7:149416200-149418400	Genic enhancers	Brain Anterior Caudate	brain
41	chr7:149416200-149418600	Enhancers	Right Atrium	heart
42	chr7:149416200-149431000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:149416400-149418200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:149416400-149418200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:149416400-149418200	Enhancers	Pancreas	Pancrea
46	chr7:149416400-149421600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:149416400-149432200	Strong transcription	Brain Germinal Matrix	brain
48	chr7:149416600-149424200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:149416600-149430400	Strong transcription	Spleen	Spleen
50	chr7:149416600-149431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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