Variant report

Variant	rs10805347
Chromosome Location	chr4:15840839-15840840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15832292..15833949-chr4:15839001..15841851,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16892304	1.00[YRI][hapmap]
rs2286880	1.00[YRI][hapmap]
rs3796863	0.82[JPT][hapmap]
rs4425367	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4516711	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4698420	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6449180	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6449190	0.90[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6831585	0.86[JPT][hapmap]
rs6836946	0.82[JPT][hapmap]
rs6840069	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6841880	0.82[JPT][hapmap]
rs9291638	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv878714	chr4:15840839-15895791	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv878715	chr4:15840839-15947493	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10805347	C1QTNF7	cis	cerebellum	SCAN
rs10805347	FAM184B	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15811400-15851200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:15811400-15852200	Weak transcription	Spleen	Spleen
3	chr4:15811800-15842200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:15819200-15853400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:15820600-15842200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:15820600-15844400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:15821200-15841600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:15827600-15841600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:15827600-15841800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:15827600-15853400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:15830000-15843200	Strong transcription	Primary B cells from cord blood	blood
12	chr4:15833200-15843200	Strong transcription	Fetal Thymus	thymus
13	chr4:15834000-15842200	Strong transcription	Thymus	Thymus
14	chr4:15834200-15843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:15834600-15844400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:15834800-15841600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:15834800-15842200	Weak transcription	Left Ventricle	heart
18	chr4:15834800-15851800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:15834800-15852800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:15835000-15857400	Weak transcription	Psoas Muscle	Psoas
21	chr4:15836400-15842200	Weak transcription	GM12878-XiMat	blood
22	chr4:15836600-15841600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:15838200-15843200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:15839800-15843200	Strong transcription	Primary T cells from cord blood	blood
25	chr4:15840400-15841400	Strong transcription	Dnd41	blood
26	chr4:15840400-15841600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:15840400-15855400	Weak transcription	Liver	Liver
28	chr4:15840800-15842600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr4:15840800-15844800	Weak transcription	Right Ventricle	heart

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