Variant report

Variant	rs647872
Chromosome Location	chr1:70685689-70685690
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	TEAD4	chr1:70685664-70686169	K562	blood:	n/a	n/a
2	SPI1	chr1:70685657-70686079	GM12891	blood:	n/a	chr1:70685873-70685886 chr1:70685877-70685884 chr1:70685876-70685885
3	POLR2A	chr1:70685260-70686052	A549	lung:	n/a	n/a
4	SPI1	chr1:70685532-70686147	HL-60	blood:	n/a	chr1:70685873-70685886 chr1:70685877-70685884 chr1:70685876-70685885
5	SPI1	chr1:70685606-70686143	HL-60	blood:	n/a	chr1:70685873-70685886 chr1:70685877-70685884 chr1:70685876-70685885
6	SPI1	chr1:70685637-70686005	GM12891	blood:	n/a	chr1:70685873-70685886 chr1:70685877-70685884 chr1:70685876-70685885
7	CCNT2	chr1:70685555-70685909	K562	blood:	n/a	n/a
8	JUND	chr1:70685665-70686075	K562	blood:	n/a	n/a
9	POLR2A	chr1:70684083-70688005	HepG2	liver:	n/a	n/a
10	CUX1	chr1:70685482-70686138	K562	blood:	n/a	n/a
11	POLR2A	chr1:70685684-70686079	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:70685654-70685924	GM12892	blood:	n/a	n/a
13	RFX5	chr1:70685644-70686048	K562	blood:	n/a	n/a
14	POLR2A	chr1:70685341-70686015	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:70685579-70685977	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:70685608-70686122	GM12892	blood:	n/a	n/a
17	EP300	chr1:70685650-70686100	K562	blood:	n/a	n/a
18	POLR2A	chr1:70684721-70686111	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:70668667..70673217-chr1:70684547..70688689,8	K562	blood:
2	chr1:70669751..70673129-chr1:70685079..70688457,4	MCF-7	breast:
3	chr1:70684364..70687178-chr1:70692446..70695041,2	MCF-7	breast:
4	chr1:70606579..70609498-chr1:70685222..70687844,2	K562	blood:
5	chr1:70667153..70674800-chr1:70681943..70693478,26	K562	blood:
6	chr1:70685268..70690578-chr1:70702989..70707451,6	MCF-7	breast:
7	chr1:70670643..70672906-chr1:70684026..70686642,2	MCF-7	breast:

Variant related genes	Relation type
SRSF11	TF binding region
ENSG00000116754	Chromatin interaction
ENSG00000033122	Chromatin interaction
ENSG00000066557	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs169172	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs574587	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs595662	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6690916	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs699221	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72678626	0.82[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	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv871898	chr1:70681486-70723347	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs647872	MIER1	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70672000-70686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:70672000-70687000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70672400-70686800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:70672600-70686400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:70672600-70686600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:70672800-70686600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:70673200-70686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:70673200-70686200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:70673200-70686400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:70673200-70686400	Weak transcription	HSMMtube	muscle
11	chr1:70673200-70686600	Weak transcription	NH-A	brain
12	chr1:70673400-70686200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:70673400-70686200	Weak transcription	HMEC	breast
14	chr1:70673400-70686400	Weak transcription	Fetal Brain Male	brain
15	chr1:70673400-70686600	Weak transcription	A549	lung
16	chr1:70673600-70686400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:70673800-70686000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:70673800-70686600	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:70673800-70687200	Weak transcription	Small Intestine	intestine
20	chr1:70674200-70685800	Weak transcription	Right Ventricle	heart
21	chr1:70674200-70686600	Weak transcription	Brain Angular Gyrus	brain
22	chr1:70674200-70686600	Weak transcription	Brain Anterior Caudate	brain
23	chr1:70674200-70686800	Weak transcription	Aorta	Aorta
24	chr1:70674400-70686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:70674400-70686400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:70674400-70686600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:70674400-70686600	Weak transcription	Colonic Mucosa	Colon
28	chr1:70674400-70686600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:70674600-70686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:70674600-70686600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:70675000-70686200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:70675400-70685800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:70675400-70686400	Weak transcription	Osteobl	bone
34	chr1:70676000-70686400	Weak transcription	Brain Germinal Matrix	brain
35	chr1:70676200-70686400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:70676400-70686200	Weak transcription	Pancreas	Pancrea
37	chr1:70676400-70686200	Weak transcription	Psoas Muscle	Psoas
38	chr1:70676400-70686200	Weak transcription	Spleen	Spleen
39	chr1:70676400-70686600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:70676400-70686600	Weak transcription	NHDF-Ad	bronchial
41	chr1:70676400-70686600	Weak transcription	NHLF	lung
42	chr1:70676400-70686800	Weak transcription	Ovary	ovary
43	chr1:70677800-70685800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:70679600-70686200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:70679600-70686600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:70681600-70686400	Weak transcription	Fetal Brain Female	brain
47	chr1:70681800-70686200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:70681800-70687200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:70682000-70686200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:70682000-70686400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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