Variant report

Variant	rs7661773
Chromosome Location	chr4:99915872-99915873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr4:99915826-99917076	K562	blood:	n/a	chr4:99916758-99916772 chr4:99916175-99916188
2	CEBPB	chr4:99915863-99916148	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:99915822-99916462	K562	blood:	n/a	n/a
4	MAZ	chr4:99915872-99917807	IMR90	lung:	n/a	chr4:99917719-99917728
5	MXI1	chr4:99915716-99918226	IMR90	lung:	n/a	n/a
6	MXI1	chr4:99915800-99918217	SK-N-SH	brain:	n/a	n/a
7	ARID3A	chr4:99915823-99916653	HepG2	liver:	n/a	n/a
8	STAT1	chr4:99915823-99916056	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99810116..99812190-chr4:99915522..99918265,3	K562	blood:
2	chr4:99848351..99851753-chr4:99915675..99920876,6	MCF-7	breast:
3	chr4:99830941..99833130-chr4:99915425..99918294,2	K562	blood:
4	chr4:99915525..99918321-chr4:99942451..99944575,2	K562	blood:
5	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
6	chr4:99859227..99861743-chr4:99914804..99916437,2	K562	blood:
7	chr4:99915265..99918330-chr4:100008518..100010769,3	K562	blood:
8	chr4:99914813..99916738-chr4:99980811..99982387,2	MCF-7	breast:
9	chr4:99913236..99916407-chr4:99949384..99951097,3	K562	blood:
10	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
11	chr4:99915764..99917972-chr4:100008352..100010409,2	MCF-7	breast:
12	chr4:99830466..99832441-chr4:99915754..99918294,2	K562	blood:
13	chr4:99915328..99918402-chr4:100008331..100011431,5	MCF-7	breast:
14	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
15	chr4:99914937..99918533-chr4:100007922..100010203,4	K562	blood:
16	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
17	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

No data

Variant related genes	Relation type
METAP1	TF binding region
MIR3684	TF binding region
ENSG00000246090	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000250496	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000249055	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10489131	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10489132	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097642	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11726503	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11737022	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508113	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12513260	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55985943	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60067299	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683532	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7687617	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7694657	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99914200-99916200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:99915200-99916000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:99915200-99916000	Weak transcription	Pancreas	Pancrea
4	chr4:99915200-99916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99915200-99916200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:99915400-99916000	Enhancers	Primary T cells from cord blood	blood
7	chr4:99915400-99916000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr4:99915400-99916000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:99915400-99916000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:99915400-99916000	Enhancers	Fetal Thymus	thymus
11	chr4:99915400-99918600	Active TSS	HepG2	liver
12	chr4:99915600-99916000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:99915600-99916000	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:99915600-99916000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr4:99915600-99916000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:99915600-99916000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:99915600-99916000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:99915600-99916000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:99915600-99916000	Enhancers	Fetal Heart	heart
20	chr4:99915600-99916000	Enhancers	Fetal Intestine Small	intestine
21	chr4:99915600-99916000	Enhancers	Fetal Lung	lung
22	chr4:99915600-99916000	Enhancers	Fetal Muscle Trunk	muscle
23	chr4:99915600-99916000	Enhancers	NH-A	brain
24	chr4:99915600-99916200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:99915600-99916200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:99915600-99916200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:99915600-99916200	Flanking Active TSS	A549	lung
28	chr4:99915600-99916400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:99915600-99916400	Flanking Active TSS	Dnd41	blood
30	chr4:99915600-99918200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:99915600-99918400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:99915800-99916000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:99915800-99916000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:99915800-99916000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:99915800-99916000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:99915800-99916000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:99915800-99916000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:99915800-99916000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr4:99915800-99916000	Enhancers	Colon Smooth Muscle	Colon
40	chr4:99915800-99916000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr4:99915800-99916000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr4:99915800-99916000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr4:99915800-99916000	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr4:99915800-99916000	Enhancers	Fetal Stomach	stomach
45	chr4:99915800-99916000	Enhancers	Stomach Mucosa	stomach
46	chr4:99915800-99916200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr4:99915800-99916200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr4:99915800-99916200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr4:99915800-99916200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:99915800-99916200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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