Variant report

Variant	rs6945447
Chromosome Location	chr7:7674605-7674606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7673907..7678610-chr7:7678691..7681851,6	MCF-7	breast:
2	chr7:7673420..7676020-chr7:7676978..7678609,2	MCF-7	breast:
3	chr7:7672448..7678421-chr7:7678475..7681557,8	K562	blood:

Variant related genes	Relation type
ENSG00000106399	Chromatin interaction
ENSG00000219545	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2158713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4330602	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4725011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6948565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6945447	SEC16B	trans	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7649000-7679000	Weak transcription	HSMM	muscle
2	chr7:7669000-7679000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:7670800-7674800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:7671400-7679200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:7671600-7674800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:7671600-7679200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:7671600-7679200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:7671800-7674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:7671800-7678800	Weak transcription	NHDF-Ad	bronchial
10	chr7:7672000-7674800	Weak transcription	Fetal Thymus	thymus
11	chr7:7672000-7675200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:7672000-7675400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:7672000-7675600	Weak transcription	Fetal Intestine Small	intestine
14	chr7:7672000-7679000	Weak transcription	Fetal Intestine Large	intestine
15	chr7:7672000-7679200	Weak transcription	Aorta	Aorta
16	chr7:7672200-7675400	Weak transcription	Thymus	Thymus
17	chr7:7672200-7677800	Weak transcription	HepG2	liver
18	chr7:7672200-7679200	Weak transcription	Gastric	stomach
19	chr7:7672400-7675600	Weak transcription	Dnd41	blood
20	chr7:7672400-7678800	Weak transcription	K562	blood
21	chr7:7672400-7679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:7672400-7679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:7672400-7679000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:7672400-7679000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:7672400-7679000	Weak transcription	Fetal Brain Female	brain
26	chr7:7672400-7679200	Weak transcription	Brain Substantia Nigra	brain
27	chr7:7672600-7675600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:7672600-7675600	Weak transcription	Fetal Stomach	stomach
29	chr7:7672600-7676600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:7672600-7679200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:7672600-7679200	Weak transcription	Ovary	ovary
32	chr7:7672600-7679400	Weak transcription	Right Ventricle	heart
33	chr7:7672800-7675400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:7672800-7676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:7672800-7679000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:7672800-7679200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:7673000-7674800	Weak transcription	Primary B cells from cord blood	blood
38	chr7:7673000-7674800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:7673000-7676200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:7673000-7679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:7673000-7679000	Weak transcription	HUVEC	blood vessel
42	chr7:7673200-7674800	Weak transcription	Liver	Liver
43	chr7:7673200-7674800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:7673200-7676000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:7673200-7679000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:7673200-7679000	Weak transcription	Fetal Kidney	kidney
47	chr7:7673400-7675400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:7673400-7678800	Weak transcription	Fetal Lung	lung
49	chr7:7673400-7679000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:7673400-7679000	Weak transcription	Adipose Nuclei	Adipose

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