Variant report

Variant	rs3757527
Chromosome Location	chr7:7681576-7681577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:7678754-7682381	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:7679088-7681837	PBDE	blood:	n/a	n/a
3	POLR2A	chr7:7679036-7681599	GM12878	blood:	n/a	n/a
4	MAX	chr7:7681128-7682174	Hela-S3	cervix:	n/a	n/a
5	ZNF384	chr7:7681556-7682177	K562	blood:	n/a	n/a
6	RFX5	chr7:7677457-7682740	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7603046..7608569-chr7:7677123..7682101,8	MCF-7	breast:
2	chr7:7679018..7681584-chr7:8008760..8011156,4	K562	blood:
3	chr7:7680700..7683473-chr7:7685626..7688056,2	MCF-7	breast:
4	chr7:7673907..7678610-chr7:7678691..7681851,6	MCF-7	breast:
5	chr7:7623467..7625147-chr7:7680756..7682414,2	K562	blood:
6	chr7:7605040..7608458-chr7:7677009..7681661,8	K562	blood:
7	chr7:7605830..7608267-chr7:7679102..7681869,5	MCF-7	breast:
8	chr7:7680697..7682834-chr7:8264362..8267648,3	K562	blood:

No data

Variant related genes	Relation type
RPA3	TF binding region
ENSG00000164654	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000272894	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10230651	1.00[CHB][hapmap]
rs10235747	1.00[CHB][hapmap]
rs10253697	1.00[CHB][hapmap]
rs10254398	1.00[CHB][hapmap]
rs12538804	1.00[CHB][hapmap]
rs35402340	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7678800-7681600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:7679000-7681600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:7679000-7681600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:7679000-7681600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:7679000-7681600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:7679000-7681600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:7679000-7681800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:7679000-7682000	Active TSS	Fetal Intestine Small	intestine
9	chr7:7679200-7681600	Active TSS	Right Atrium	heart
10	chr7:7679200-7681600	Active TSS	NHEK	skin
11	chr7:7679200-7682000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:7679400-7681600	Active TSS	Aorta	Aorta
13	chr7:7679400-7682000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:7679600-7681600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:7679600-7681800	Active TSS	Fetal Thymus	thymus
16	chr7:7679600-7682200	Active TSS	Colonic Mucosa	Colon
17	chr7:7680400-7681800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:7680600-7682000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:7680800-7681600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:7680800-7681600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr7:7680800-7681600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:7680800-7681600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:7680800-7681600	Flanking Active TSS	Liver	Liver
24	chr7:7680800-7681600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr7:7680800-7681600	Flanking Active TSS	Osteobl	bone
26	chr7:7680800-7681800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:7680800-7681800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr7:7680800-7681800	Flanking Active TSS	Dnd41	blood
29	chr7:7681000-7681600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr7:7681000-7681600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:7681000-7681600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr7:7681000-7681600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:7681000-7681600	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr7:7681000-7681600	Flanking Active TSS	Fetal Lung	lung
35	chr7:7681000-7681600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:7681000-7681600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr7:7681000-7681800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:7681000-7681800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr7:7681000-7681800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:7681000-7681800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr7:7681000-7681800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr7:7681000-7681800	Flanking Active TSS	Fetal Kidney	kidney
43	chr7:7681000-7682000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr7:7681000-7682000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr7:7681000-7682000	Enhancers	Spleen	Spleen
46	chr7:7681000-7682200	Flanking Active TSS	Hela-S3	cervix
47	chr7:7681200-7681600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:7681200-7681600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:7681200-7681600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:7681200-7681600	Flanking Active TSS	Fetal Heart	heart

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