Variant report

Variant	rs6943751
Chromosome Location	chr7:70258282-70258283
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	chr7:70255328..70258832-chr7:70260648..70264116,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17604518	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs2049634	1.00[CHB][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6460558	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6973981	0.81[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	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1022759	chr7:70236919-70292317	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv888341	chr7:70249358-70316365	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv429772	chr7:70250125-70357061	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv607437	chr7:70251651-70568354	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6943751	FKBP6	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70229400-70259600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr7:70229400-70259600	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr7:70234600-70259600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:70238600-70259600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:70238800-70259600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:70239200-70259400	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr7:70239800-70259400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:70240800-70259200	Strong transcription	Fetal Intestine Small	intestine
9	chr7:70241000-70259200	Strong transcription	Aorta	Aorta
10	chr7:70241800-70259400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:70242200-70259600	Strong transcription	Dnd41	blood
12	chr7:70242200-70259600	Weak transcription	NHDF-Ad	bronchial
13	chr7:70243200-70259600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:70243600-70259600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:70244800-70259200	Strong transcription	GM12878-XiMat	blood
16	chr7:70245400-70258600	Strong transcription	Fetal Thymus	thymus
17	chr7:70246200-70258400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:70246400-70259200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:70247000-70259400	Strong transcription	Liver	Liver
20	chr7:70247600-70259400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:70248200-70258800	Strong transcription	Fetal Brain Female	brain
22	chr7:70248200-70260200	Strong transcription	Fetal Stomach	stomach
23	chr7:70248600-70260400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:70251600-70260600	Weak transcription	Fetal Kidney	kidney
25	chr7:70252000-70260200	Weak transcription	Primary B cells from cord blood	blood
26	chr7:70252400-70262200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:70252600-70266000	Weak transcription	Fetal Brain Male	brain
28	chr7:70252800-70261200	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:70253000-70259800	Weak transcription	HMEC	breast
30	chr7:70253200-70258400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:70253400-70259800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:70253600-70259800	Strong transcription	NHEK	skin
33	chr7:70253800-70258400	Strong transcription	Adipose Nuclei	Adipose
34	chr7:70254200-70258400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:70254600-70259400	Strong transcription	Primary T cells from cord blood	blood
36	chr7:70254600-70259400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:70254600-70262200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:70255400-70259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:70255400-70261600	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:70255600-70260200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:70255600-70262800	Weak transcription	Pancreas	Pancrea
42	chr7:70255800-70258600	Weak transcription	Psoas Muscle	Psoas
43	chr7:70255800-70262200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:70256000-70258600	Weak transcription	Colonic Mucosa	Colon
45	chr7:70256000-70258600	Strong transcription	Fetal Intestine Large	intestine
46	chr7:70256000-70258800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:70256000-70259600	Weak transcription	Gastric	stomach
48	chr7:70256000-70260400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:70256000-70261600	Weak transcription	Lung	lung
50	chr7:70256000-70262200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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