Variant report

Variant	rs7615686
Chromosome Location	chr3:46447350-46447351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:46447027-46447481	MCF-7	breast:	n/a	n/a
2	ZNF384	chr3:46447221-46447512	K562	blood:	n/a	n/a
3	POLR2A	chr3:46447303-46447479	MCF-7	breast:	n/a	n/a
4	MAX	chr3:46446755-46447362	K562	blood:	n/a	n/a
5	FOXA1	chr3:46447166-46447393	T-47D	breast:	n/a	n/a
6	POLR2A	chr3:46447321-46447549	Hela-S3	cervix:	n/a	n/a
7	KAP1	chr3:46446987-46447389	U2OS	brain:	n/a	n/a
8	FOS	chr3:46446826-46447392	HUVEC	blood vessel:	n/a	n/a
9	FOXA1	chr3:46447110-46447415	T-47D	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46447015..46450131-chr3:46450692..46453311,4	K562	blood:
2	chr3:46435557..46438302-chr3:46445017..46447658,3	MCF-7	breast:
3	chr3:46441114..46442760-chr3:46445695..46448198,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCRL2	TF binding region
ENSG00000121797	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17141081	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894389	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2097276	0.81[ASN][1000 genomes]
rs34001666	0.81[ASN][1000 genomes]
rs34127016	0.81[ASN][1000 genomes]
rs34158984	0.81[ASN][1000 genomes]
rs34376243	0.81[ASN][1000 genomes]
rs34474200	0.81[ASN][1000 genomes]
rs34629133	0.81[ASN][1000 genomes]
rs34783306	0.81[ASN][1000 genomes]
rs34932765	0.81[ASN][1000 genomes]
rs35217732	0.81[ASN][1000 genomes]
rs35832211	0.81[ASN][1000 genomes]
rs35895909	0.81[ASN][1000 genomes]
rs36056379	0.81[ASN][1000 genomes]
rs36082746	0.81[ASN][1000 genomes]
rs4345106	0.81[ASN][1000 genomes]
rs4607147	0.81[ASN][1000 genomes]
rs4630979	0.81[ASN][1000 genomes]
rs62246129	0.87[ASN][1000 genomes]
rs62246130	0.87[ASN][1000 genomes]
rs62246140	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62246142	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6441978	0.82[ASN][1000 genomes]
rs7610554	0.80[ASN][1000 genomes]
rs7613140	0.81[ASN][1000 genomes]
rs7613142	0.81[ASN][1000 genomes]
rs7632215	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7645961	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:46439200-46448200	Weak transcription	Left Ventricle	heart
4	chr3:46439600-46448400	Weak transcription	Psoas Muscle	Psoas
5	chr3:46442400-46448400	Weak transcription	HSMMtube	muscle
6	chr3:46442600-46448200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:46443200-46448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:46445000-46448200	Enhancers	Fetal Intestine Large	intestine
9	chr3:46445000-46448600	Enhancers	Fetal Intestine Small	intestine
10	chr3:46445000-46450000	Enhancers	Spleen	Spleen
11	chr3:46445800-46448600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:46446000-46448600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:46446200-46447600	Enhancers	Ovary	ovary
14	chr3:46446200-46448200	Enhancers	K562	blood
15	chr3:46446200-46448400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:46446200-46448600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr3:46446200-46448600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr3:46446200-46448600	Enhancers	Right Atrium	heart
19	chr3:46446200-46450200	Enhancers	Fetal Lung	lung
20	chr3:46446400-46447400	Weak transcription	Lung	lung
21	chr3:46446400-46447600	Enhancers	Liver	Liver
22	chr3:46446400-46447600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr3:46446400-46447800	Weak transcription	Fetal Thymus	thymus
24	chr3:46446400-46447800	Weak transcription	Small Intestine	intestine
25	chr3:46446400-46448600	Enhancers	Primary B cells from cord blood	blood
26	chr3:46446400-46448600	Enhancers	Placenta	Placenta
27	chr3:46446400-46448600	Enhancers	HUVEC	blood vessel
28	chr3:46446400-46448800	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:46446400-46448800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr3:46446600-46447400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:46446600-46448600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr3:46446600-46448600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr3:46446800-46447400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:46446800-46447800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr3:46446800-46448000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:46446800-46448200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:46446800-46448200	Enhancers	Hela-S3	cervix
38	chr3:46446800-46448400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:46446800-46448400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:46446800-46448600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:46446800-46448600	Enhancers	NHLF	lung
42	chr3:46446800-46449000	Enhancers	Pancreas	Pancrea
43	chr3:46446800-46450600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:46447000-46447400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr3:46447000-46447600	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr3:46447000-46448000	Weak transcription	Fetal Kidney	kidney
47	chr3:46447000-46448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:46447000-46448600	Enhancers	Primary B cells from peripheral blood	blood
49	chr3:46447000-46448600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:46447000-46448600	Enhancers	Gastric	stomach

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