Variant report

Variant	rs6673528
Chromosome Location	chr1:247374931-247374932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:247372272-247375223	SK-N-SH	brain:	n/a	n/a
2	RFX5	chr1:247374911-247375054	GM12878	blood:	n/a	n/a
3	TEAD4	chr1:247374722-247374994	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr1:247374816-247374942	K562	blood:	n/a	n/a
5	JUND	chr1:247374856-247374968	K562	blood:	n/a	n/a
6	CHD2	chr1:247374928-247375920	GM12878	blood:	n/a	n/a
7	RFX5	chr1:247373157-247375206	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr1:247374608-247374959	HepG2	liver:	n/a	n/a
9	USF2	chr1:247374901-247375320	GM12878	blood:	n/a	n/a
10	MXI1	chr1:247374706-247375013	HepG2	liver:	n/a	n/a
11	CHD1	chr1:247374884-247374955	GM12878	blood:	n/a	n/a
12	MAX	chr1:247373407-247374953	NB4	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247366973..247371599-chr1:247371697..247375755,6	MCF-7	breast:
2	chr1:247371907..247375145-chr1:247492885..247497524,4	MCF-7	breast:
3	chr1:247374235..247377046-chr1:247498080..247500631,2	K562	blood:
4	chr1:247274493..247276812-chr1:247371838..247375899,3	K562	blood:
5	chr1:247371861..247375582-chr1:247493463..247496360,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF124-2	chr1:247374829-247374966	ENSG00000232347.1

No data

Variant related genes	Relation type
MIR3916	TF binding region
ENSG00000252516	Chromatin interaction
ENSG00000221953	Chromatin interaction
ENSG00000162714	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10924967	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064090	0.97[AFR][1000 genomes]
rs6669684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6672110	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676610	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
3	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
8	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
9	nsv873436	chr1:247339064-247385877	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247373400-247375600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:247374200-247375000	Weak transcription	Stomach Mucosa	stomach
3	chr1:247374200-247379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:247374400-247375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:247374400-247375000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:247374400-247375000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:247374400-247375000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:247374400-247375000	Enhancers	Fetal Kidney	kidney
9	chr1:247374400-247375000	Flanking Active TSS	Dnd41	blood
10	chr1:247374400-247375000	Enhancers	K562	blood
11	chr1:247374400-247375200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:247374400-247375200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:247374400-247375400	Weak transcription	HSMM	muscle
14	chr1:247374400-247375600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:247374600-247375000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:247374600-247375000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:247374600-247375000	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:247374600-247375000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:247374600-247375000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:247374600-247375000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:247374600-247375000	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:247374600-247375000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:247374600-247375000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:247374600-247375000	Enhancers	Fetal Muscle Trunk	muscle
25	chr1:247374600-247375000	Enhancers	Fetal Muscle Leg	muscle
26	chr1:247374600-247375000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:247374600-247375000	Enhancers	NHEK	skin
28	chr1:247374600-247375200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:247374600-247375200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:247374600-247375400	Enhancers	Primary B cells from cord blood	blood
31	chr1:247374600-247375400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:247374600-247375600	Enhancers	Esophagus	oesophagus
33	chr1:247374600-247375600	Enhancers	Fetal Intestine Small	intestine
34	chr1:247374600-247376200	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:247374600-247376200	Flanking Active TSS	GM12878-XiMat	blood
36	chr1:247374600-247376800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:247374600-247376800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr1:247374600-247377200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:247374600-247377200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:247374600-247377200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:247374600-247379600	Weak transcription	Fetal Thymus	thymus
42	chr1:247374800-247375000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:247374800-247375000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:247374800-247375000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:247374800-247375000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:247374800-247375000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:247374800-247375000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:247374800-247375000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:247374800-247375000	Enhancers	Brain Angular Gyrus	brain
50	chr1:247374800-247375000	Flanking Active TSS	Duodenum Mucosa	Duodenum

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