Variant report

Variant	rs3750037
Chromosome Location	chr7:6487293-6487294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
2	chr7:6486176..6487864-chr7:6615659..6618201,2	MCF-7	breast:
3	chr7:6412857..6414877-chr7:6485942..6488132,2	MCF-7	breast:
4	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269781	Chromatin interaction
ENSG00000136238	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000136247	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12535659	0.80[EUR][1000 genomes]
rs12702510	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13221129	0.80[EUR][1000 genomes]
rs3828944	0.85[EUR][1000 genomes]
rs3828946	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4724806	0.85[EUR][1000 genomes]
rs7797644	0.83[EUR][1000 genomes]
rs7810332	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs836545	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	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
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971152	chr7:6485642-6509340	Enhancers Active TSS Weak transcription Strong transcription 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6486200-6487400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:6486200-6488200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:6486200-6488400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr7:6486200-6488400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:6486200-6488400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr7:6486200-6488400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:6486200-6488400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:6486200-6488800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:6486200-6489200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:6486400-6487400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr7:6486400-6487400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr7:6486400-6487400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr7:6486400-6487400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr7:6486400-6487600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr7:6486400-6488200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:6486400-6488200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:6486400-6488200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:6486400-6488200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:6486400-6488200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:6486400-6488200	Active TSS	HMEC	breast
21	chr7:6486400-6488200	Active TSS	HSMM	muscle
22	chr7:6486400-6488200	Active TSS	NHDF-Ad	bronchial
23	chr7:6486400-6488400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:6486400-6488600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:6486400-6488600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:6486400-6488600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr7:6486400-6488600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:6486400-6488800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:6486400-6488800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:6486400-6488800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:6486600-6488200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:6486600-6488200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:6486600-6488200	Active TSS	Fetal Intestine Large	intestine
34	chr7:6486600-6488200	Active TSS	Lung	lung
35	chr7:6486600-6488200	Active TSS	Ovary	ovary
36	chr7:6486600-6488200	Active TSS	Psoas Muscle	Psoas
37	chr7:6486600-6488200	Active TSS	NH-A	brain
38	chr7:6486600-6488200	Active TSS	NHEK	skin
39	chr7:6486600-6488200	Active TSS	NHLF	lung
40	chr7:6486600-6488200	Active TSS	Osteobl	bone
41	chr7:6486600-6488400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:6486600-6488400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:6486600-6488400	Active TSS	Fetal Kidney	kidney
44	chr7:6486600-6488400	Active TSS	HSMMtube	muscle
45	chr7:6486600-6488600	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:6486600-6488600	Active TSS	A549	lung
47	chr7:6486800-6487400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:6486800-6487600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr7:6486800-6488000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr7:6486800-6488000	Active TSS	Muscle Satellite Cultured Cells	--

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