Variant report

Variant	rs6969228
Chromosome Location	chr7:102786732-102786733
allele	C/T
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	MAX	chr7:102786538-102786815	K562	blood:	n/a	n/a
2	WRNIP1	chr7:102786694-102786804	GM12878	blood:	n/a	n/a
3	ZNF384	chr7:102786689-102787054	K562	blood:	n/a	n/a
4	CEBPB	chr7:102786731-102786767	K562	blood:	n/a	n/a
5	MYC	chr7:102786727-102787263	K562	blood:	n/a	n/a
6	KAP1	chr7:102786549-102787307	HEK293	kidney:	n/a	n/a
7	ZNF384	chr7:102786710-102786884	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102781326..102784707-chr7:102785831..102787592,3	MCF-7	breast:

Variant related genes	Relation type
RPL19P12	TF binding region
ENSG00000224415	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73714549	0.94[AFR][1000 genomes]
rs73714551	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102747600-102789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:102764200-102787000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:102768800-102788600	Weak transcription	Right Ventricle	heart
4	chr7:102769000-102786800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:102769000-102787000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:102769200-102786800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:102769200-102787000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:102769200-102787000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:102769200-102787000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:102769200-102787200	Weak transcription	Adipose Nuclei	Adipose
11	chr7:102769200-102787800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:102769200-102788200	Weak transcription	Primary B cells from cord blood	blood
13	chr7:102769200-102788400	Weak transcription	Thymus	Thymus
14	chr7:102771000-102788800	Weak transcription	Small Intestine	intestine
15	chr7:102774000-102788600	Weak transcription	HSMMtube	muscle
16	chr7:102774200-102788600	Weak transcription	Psoas Muscle	Psoas
17	chr7:102776000-102786800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:102776000-102787200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:102776000-102787200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:102776200-102786800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:102776200-102788400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:102776600-102787600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:102781400-102786800	Enhancers	Stomach Mucosa	stomach
24	chr7:102781600-102787800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:102782200-102788600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:102782400-102786800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:102782400-102786800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:102782400-102787000	Weak transcription	Colonic Mucosa	Colon
29	chr7:102782400-102787200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:102782400-102789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:102782400-102789200	Weak transcription	Gastric	stomach
32	chr7:102782600-102786800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:102782600-102787000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:102782600-102787000	Weak transcription	Primary T cells from cord blood	blood
35	chr7:102782600-102788400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:102782800-102787000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:102782800-102787000	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:102782800-102787800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:102782800-102788400	Weak transcription	HSMM	muscle
40	chr7:102782800-102789200	Weak transcription	Spleen	Spleen
41	chr7:102783200-102786800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:102783200-102786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:102783200-102787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:102783400-102786800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:102783400-102787000	Weak transcription	NHEK	skin
46	chr7:102783400-102787000	Weak transcription	Osteobl	bone
47	chr7:102783400-102787200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:102783400-102787600	Weak transcription	A549	lung
49	chr7:102784000-102788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:102784200-102786800	Enhancers	Fetal Intestine Large	intestine

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