Variant report

Variant	rs188916679
Chromosome Location	chr7:96655698-96655699
allele	C/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	POLR2A	chr7:96655189-96656411	H1-neurons	neurons:	n/a	n/a
2	RUNX3	chr7:96655562-96655787	GM12878	blood:	n/a	chr7:96655747-96655756 chr7:96655747-96655756
3	POLR2A	chr7:96655396-96656178	H1-neurons	neurons:	n/a	n/a
4	RAD21	chr7:96655299-96657631	SK-N-SH	brain:	n/a	chr7:96655925-96655938 chr7:96657146-96657165
5	SUZ12	chr7:96655000-96657260	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr7:96655258-96656079	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318
8	POLR2A	chr7:96655282-96655929	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:95543308..95544949-chr7:96654875..96656626,2	MCF-7	breast:

Variant related genes	Relation type
DLX5	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv970552	chr7:96654892-96655988	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96653200-96656600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr7:96654000-96657200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr7:96654200-96656800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:96654400-96657200	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr7:96654600-96657000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:96654800-96656400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:96654800-96656600	Weak transcription	Osteobl	bone
8	chr7:96655000-96655800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:96655200-96655800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
10	chr7:96655200-96655800	Bivalent Enhancer	Colonic Mucosa	Colon
11	chr7:96655200-96656200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr7:96655200-96656200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr7:96655200-96656200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr7:96655200-96656400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr7:96655200-96656800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:96655200-96657200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
17	chr7:96655400-96655800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr7:96655400-96655800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr7:96655400-96655800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:96655400-96655800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr7:96655400-96656000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
22	chr7:96655400-96656000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr7:96655400-96656000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
24	chr7:96655400-96656000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
25	chr7:96655400-96656200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr7:96655400-96656200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
27	chr7:96655400-96656200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr7:96655400-96656400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr7:96655400-96656600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr7:96655400-96656600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr7:96655400-96656600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:96655400-96656600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:96655400-96656600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr7:96655400-96657200	Active TSS	Right Atrium	heart
35	chr7:96655600-96655800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:96655600-96655800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr7:96655600-96655800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:96655600-96655800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:96655600-96655800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:96655600-96655800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
41	chr7:96655600-96655800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
42	chr7:96655600-96655800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr7:96655600-96655800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
44	chr7:96655600-96655800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:96655600-96655800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
46	chr7:96655600-96655800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
47	chr7:96655600-96655800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
48	chr7:96655600-96655800	Active TSS	Right Ventricle	heart
49	chr7:96655600-96655800	Bivalent Enhancer	Small Intestine	intestine
50	chr7:96655600-96655800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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