Variant report

Variant	rs6974325
Chromosome Location	chr7:6738483-6738484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6736141..6738597-chr7:6745061..6747803,4	MCF-7	breast:
2	chr7:6728320..6732586-chr7:6737801..6740275,4	K562	blood:
3	chr7:6720927..6723913-chr7:6737715..6740062,2	K562	blood:
4	chr7:6731530..6734868-chr7:6736230..6738716,4	MCF-7	breast:
5	chr7:6720927..6724330-chr7:6736281..6739215,3	K562	blood:
6	chr7:6698245..6699981-chr7:6737287..6739036,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265245	Chromatin interaction
ENSG00000164631	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10226798	0.88[ASN][1000 genomes]
rs10244591	0.92[JPT][hapmap]
rs10255119	0.83[EUR][1000 genomes]
rs10271259	0.85[EUR][1000 genomes]
rs10272921	0.92[JPT][hapmap]
rs10951991	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10951994	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs12537448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12673800	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13224907	0.92[JPT][hapmap]
rs13247186	0.90[JPT][hapmap]
rs1464922	0.91[EUR][1000 genomes]
rs1464923	0.94[EUR][1000 genomes]
rs2140909	0.94[CHB][hapmap]
rs2881352	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs3735302	0.94[EUR][1000 genomes]
rs3757481	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3757482	0.80[ASN][1000 genomes]
rs3757483	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3801033	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3801034	0.92[ASN][1000 genomes]
rs3801036	0.96[ASN][1000 genomes]
rs3801038	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3801039	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs56257118	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58569329	0.85[EUR][1000 genomes]
rs58738503	0.83[EUR][1000 genomes]
rs60514449	0.82[EUR][1000 genomes]
rs62439670	0.85[EUR][1000 genomes]
rs62439674	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62439695	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62439697	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62441324	0.83[EUR][1000 genomes]
rs6463576	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs6463580	0.92[JPT][hapmap]
rs6944332	0.97[CHD][hapmap];0.92[JPT][hapmap]
rs6948691	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6953825	0.92[JPT][hapmap]
rs6954172	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs6964079	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965641	0.94[EUR][1000 genomes]
rs6967414	0.80[ASN][1000 genomes]
rs6969066	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6971621	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979127	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs7357087	0.82[ASN][1000 genomes]
rs7779296	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs7782227	0.80[ASN][1000 genomes]
rs7798471	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs7804259	1.00[JPT][hapmap]
rs7808550	0.88[EUR][1000 genomes]
rs9639027	0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6974325	C7orf28B	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6712200-6739400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr7:6712400-6744000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:6718600-6742600	ZNF genes & repeats	Liver	Liver
4	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:6721600-6740800	ZNF genes & repeats	Fetal Brain Female	brain
6	chr7:6721600-6743800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr7:6721600-6744600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:6721800-6740800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr7:6721800-6744000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:6722200-6741400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr7:6722400-6745000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr7:6722600-6739400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr7:6722600-6745000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:6723600-6739400	ZNF genes & repeats	HSMMtube	muscle
16	chr7:6723600-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:6723800-6745000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:6724000-6744800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:6725000-6739600	ZNF genes & repeats	HSMM	muscle
21	chr7:6725000-6741800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:6725000-6744800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:6725200-6739400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr7:6725800-6745000	ZNF genes & repeats	NH-A	brain
25	chr7:6726000-6739400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
26	chr7:6726000-6739400	ZNF genes & repeats	Osteobl	bone
27	chr7:6726000-6740600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr7:6726000-6741400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr7:6726000-6741600	ZNF genes & repeats	Dnd41	blood
30	chr7:6726000-6742200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr7:6726000-6743600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr7:6726000-6744800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr7:6726000-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:6726000-6745000	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr7:6726000-6745200	ZNF genes & repeats	A549	lung
36	chr7:6726200-6739000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr7:6726200-6739400	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr7:6726200-6739400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:6726200-6739400	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr7:6726200-6739400	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr7:6726200-6739400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
42	chr7:6726200-6739400	ZNF genes & repeats	Fetal Kidney	kidney
43	chr7:6726200-6739400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr7:6726200-6739400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
45	chr7:6726200-6739400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr7:6726200-6739400	ZNF genes & repeats	HUVEC	blood vessel
47	chr7:6726200-6739400	ZNF genes & repeats	NHDF-Ad	bronchial
48	chr7:6726200-6739600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr7:6726200-6739800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr7:6726200-6739800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum

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