Variant report

Variant	rs3918378
Chromosome Location	chr3:46396706-46396707
allele	G/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	GATA1	chr3:46396326-46397026	K562	blood:	n/a	n/a
2	TAL1	chr3:46396554-46396774	K562	blood:	n/a	n/a
3	TEAD4	chr3:46396422-46396901	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46395645..46397767-chr3:46399914..46402472,2	K562	blood:

Variant related genes	Relation type
CCR2	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10490771	1.00[AMR][1000 genomes]
rs11574432	1.00[AMR][1000 genomes]
rs11574438	1.00[AMR][1000 genomes]
rs11574444	1.00[AMR][1000 genomes]
rs11575823	1.00[AMR][1000 genomes]
rs1607738	0.85[AMR][1000 genomes]
rs17078868	1.00[MEX][hapmap]
rs17078932	0.85[AMR][1000 genomes]
rs17078949	0.85[AMR][1000 genomes]
rs17141109	1.00[AMR][1000 genomes]
rs17141112	1.00[AMR][1000 genomes]
rs28584272	0.85[AMR][1000 genomes]
rs3918383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3918386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41469351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41475349	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41499550	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463007	0.87[AMR][1000 genomes]
rs57571354	0.85[AMR][1000 genomes]
rs58970771	0.85[AMR][1000 genomes]
rs59568150	0.85[AMR][1000 genomes]
rs60700685	0.85[AMR][1000 genomes]
rs61151866	0.85[AMR][1000 genomes]
rs61389423	0.85[AMR][1000 genomes]
rs61550542	0.85[AMR][1000 genomes]
rs61740461	0.85[AMR][1000 genomes]
rs72900271	0.85[AMR][1000 genomes]
rs72900273	0.85[AMR][1000 genomes]
rs72900285	0.85[AMR][1000 genomes]
rs72900298	0.85[AMR][1000 genomes]
rs72902113	0.85[AMR][1000 genomes]
rs72902116	0.85[AMR][1000 genomes]
rs72902152	0.85[AMR][1000 genomes]
rs72904172	0.85[AMR][1000 genomes]
rs72906018	0.81[AFR][1000 genomes];0.85[AMR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46390200-46397800	Enhancers	Fetal Thymus	thymus
2	chr3:46390800-46396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:46392200-46396800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr3:46392400-46402600	Weak transcription	Spleen	Spleen
5	chr3:46394400-46401200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:46395200-46397000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr3:46395400-46397000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr3:46395400-46398000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:46395600-46397000	Active TSS	Colonic Mucosa	Colon
10	chr3:46395600-46397200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:46395600-46397800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:46395800-46396800	Active TSS	Primary monocytes fromperipheralblood	blood
13	chr3:46395800-46396800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:46395800-46397000	Enhancers	Primary T cells from cord blood	blood
15	chr3:46395800-46398000	Active TSS	Duodenum Mucosa	Duodenum
16	chr3:46395800-46404200	Weak transcription	Right Atrium	heart
17	chr3:46396000-46396800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr3:46396000-46397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:46396000-46397200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:46396000-46397400	Weak transcription	GM12878-XiMat	blood
21	chr3:46396000-46398200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:46396000-46401000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:46396000-46422000	Weak transcription	Lung	lung
24	chr3:46396200-46397400	Weak transcription	Fetal Brain Male	brain
25	chr3:46396200-46398200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:46396200-46398400	Active TSS	Primary T cells fromperipheralblood	blood
27	chr3:46396400-46396800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:46396400-46397600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:46396400-46398600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr3:46396400-46400800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:46396400-46401000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:46396600-46396800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:46396600-46396800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr3:46396600-46397400	Enhancers	Primary B cells from cord blood	blood

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