Variant report

Variant	rs806213
Chromosome Location	chr7:127234990-127234991
allele	C/T
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	chr7:127234325-127235004	HL-60	blood:	n/a	n/a
2	POLR2A	chr7:127232638-127235426	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:127234930-127235409	MCF10A-Er-Src	breast:	n/a	n/a
4	SPI1	chr7:127234346-127235084	HL-60	blood:	n/a	n/a
5	MAZ	chr7:127234990-127235062	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127224949..127227429-chr7:127232952..127234995,2	MCF-7	breast:
2	chr7:127232542..127235287-chr7:127252972..127255661,2	K562	blood:
3	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:

Variant related genes	Relation type
GCC1	TF binding region
FSCN3	TF binding region
ENSG00000179562	Chromatin interaction
ENSG00000106331	Chromatin interaction
ENSG00000004059	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs712702	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs806177	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs806190	1.00[CEU][hapmap];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127229600-127241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:127229800-127237400	Weak transcription	Right Atrium	heart
3	chr7:127231600-127235200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:127231600-127237000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:127231600-127241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:127232000-127235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:127232000-127235000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:127232000-127235000	Weak transcription	HUVEC	blood vessel
9	chr7:127232000-127235200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:127232000-127235200	Weak transcription	Gastric	stomach
11	chr7:127232000-127235400	Weak transcription	NHLF	lung
12	chr7:127232000-127235600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:127232000-127235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:127232000-127238200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:127232000-127240600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:127232000-127240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:127232000-127240800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:127232000-127243200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:127232000-127245600	Weak transcription	Aorta	Aorta
20	chr7:127232200-127235000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:127232200-127235000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:127232200-127235400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:127232200-127236400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:127232200-127237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:127232200-127238200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:127232200-127240000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:127232200-127240800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:127232200-127241000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:127232200-127241000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:127232200-127241600	Weak transcription	Adipose Nuclei	Adipose
31	chr7:127232200-127248200	Weak transcription	Spleen	Spleen
32	chr7:127232400-127235600	Weak transcription	Brain Germinal Matrix	brain
33	chr7:127232400-127240400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:127232600-127236000	Enhancers	Pancreas	Pancrea
35	chr7:127232800-127235200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:127232800-127235400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:127232800-127235400	Enhancers	Liver	Liver
38	chr7:127232800-127240800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:127233000-127235200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:127233000-127235200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:127233000-127236200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:127233000-127236400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:127233200-127236400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:127233200-127244000	Weak transcription	Left Ventricle	heart
45	chr7:127233400-127235000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:127233400-127235600	Weak transcription	Primary B cells from cord blood	blood
47	chr7:127233400-127236400	Weak transcription	Thymus	Thymus
48	chr7:127233400-127243000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:127233600-127235200	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:127233600-127235400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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