Variant report

Variant	rs116570375
Chromosome Location	chr7:100965943-100965944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:100965860-100966018	HepG2	liver:	n/a	chr7:100965895-100965906
2	POLR2A	chr7:100964871-100966079	GM12891	blood:	n/a	n/a
3	MXI1	chr7:100963782-100966265	SK-N-SH	brain:	n/a	n/a
4	REST	chr7:100964369-100966043	H1-neurons	neurons:	n/a	chr7:100964700-100964714
5	POLR2A	chr7:100964530-100966254	SK-N-MC	brain:	n/a	n/a
6	RAD21	chr7:100964505-100966287	SK-N-SH	brain:	n/a	chr7:100965537-100965556
7	SMC3	chr7:100964354-100966245	SK-N-SH	brain:	n/a	chr7:100965538-100965552 chr7:100965539-100965549
8	POLR2A	chr7:100964797-100966091	PANC-1	pancreas:	n/a	n/a
9	CTCF	chr7:100964512-100966168	SK-N-SH	brain:	n/a	chr7:100965537-100965553 chr7:100965539-100965552 chr7:100965536-100965554 chr7:100965538-100965559
10	POLR2A	chr7:100964700-100966093	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:100964719-100966284	HepG2	liver:	n/a	n/a
12	MAFK	chr7:100965855-100966091	HepG2	liver:	n/a	chr7:100965895-100965906
13	HCFC1	chr7:100964579-100966057	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100950840..100954191-chr7:100963498..100966604,5	MCF-7	breast:
2	chr7:100965612..100969667-chr7:101005034..101007660,3	MCF-7	breast:
3	chr7:100964710..100967141-chr7:101003077..101007417,4	MCF-7	breast:

Variant related genes	Relation type
RABL5	TF binding region
ENSG00000160963	Chromatin interaction
ENSG00000232445	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking 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 miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv1023393	chr7:100904333-101102046	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv2752135	chr7:100932330-101135565	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2752136	chr7:100932330-101143259	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1017098	chr7:100935631-101117541	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv539042	chr7:100935631-101117541	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2752137	chr7:100938008-101135398	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv1028170	chr7:100958058-101117541	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv539043	chr7:100958058-101117541	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv517175	chr7:100960550-101138286	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1034896	chr7:100961416-101135398	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1019056	chr7:100961416-101137314	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv1024423	chr7:100963863-101128424	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv1033659	chr7:100963863-101135398	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1018124	chr7:100963863-101137314	Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv1017544	chr7:100965601-101116322	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv1029050	chr7:100965601-101127455	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv1017844	chr7:100965601-101128424	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
29	nsv1022477	chr7:100965601-101135398	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
30	nsv1026450	chr7:100965601-101137314	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100964000-100966000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:100964000-100966000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:100964200-100966000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:100964200-100966000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:100964400-100966000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:100964400-100966000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:100964400-100966000	Active TSS	A549	lung
8	chr7:100964600-100966200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:100964800-100966000	Active TSS	Brain Angular Gyrus	brain
10	chr7:100964800-100966000	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:100965000-100966000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:100965000-100966200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:100965200-100966000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:100965200-100966000	Flanking Active TSS	Dnd41	blood
15	chr7:100965400-100966000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:100965400-100966000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr7:100965600-100966000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:100965600-100966000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:100965600-100966000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:100965600-100966000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr7:100965600-100966000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:100965600-100966000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:100965600-100966000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:100965600-100966000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:100965600-100966000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:100965600-100966000	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr7:100965600-100966000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr7:100965600-100966000	Flanking Active TSS	Fetal Kidney	kidney
29	chr7:100965600-100966000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr7:100965600-100966000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr7:100965600-100966000	Flanking Active TSS	Hela-S3	cervix
32	chr7:100965600-100966000	Flanking Active TSS	HepG2	liver
33	chr7:100965800-100966000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:100965800-100966000	Enhancers	Primary B cells from peripheral blood	blood
35	chr7:100965800-100966000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr7:100965800-100966000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:100965800-100966000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:100965800-100966000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:100965800-100966000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr7:100965800-100966000	Enhancers	Colon Smooth Muscle	Colon
41	chr7:100965800-100966000	Enhancers	Fetal Brain Male	brain
42	chr7:100965800-100966000	Flanking Active TSS	Fetal Brain Female	brain
43	chr7:100965800-100966000	Enhancers	Fetal Heart	heart
44	chr7:100965800-100966000	Active TSS	Fetal Intestine Small	intestine
45	chr7:100965800-100966000	Enhancers	Fetal Lung	lung
46	chr7:100965800-100966000	Enhancers	Fetal Stomach	stomach
47	chr7:100965800-100966000	Active TSS	GM12878-XiMat	blood
48	chr7:100965800-100966000	Enhancers	HSMM	muscle
49	chr7:100965800-100966000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr7:100965800-100966000	Enhancers	NHEK	skin

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