Variant report

Variant	rs188717929
Chromosome Location	chr7:104571555-104571556
allele	A/C
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	EP300	chr7:104571508-104572409	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr7:104571378-104572324	ECC-1	luminal epithelium:	n/a	n/a
3	GATA2	chr7:104571461-104572300	SH-SY5Y	brain:	n/a	n/a
4	EP300	chr7:104571356-104572298	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr7:104571306-104572531	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr7:104571378-104572262	ECC-1	luminal epithelium:	n/a	chr7:104572010-104572020 chr7:104571676-104571683 chr7:104571934-104571944 chr7:104572014-104572021 chr7:104571935-104571942
7	NFIC	chr7:104571449-104572197	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr7:104571444-104572326	ECC-1	luminal epithelium:	n/a	chr7:104572010-104572020 chr7:104571676-104571683 chr7:104571934-104571944 chr7:104572014-104572021 chr7:104571935-104571942

No.	Distal block	Cell Line	Cell type
1	chr7:104566756..104568600-chr7:104570794..104572852,2	K562	blood:
2	chr7:104570950..104573413-chr7:104580025..104582292,3	K562	blood:
3	chr7:104571417..104573413-chr7:104580025..104582244,2	K562	blood:
4	chr7:104570597..104573173-chr7:104577411..104579738,2	K562	blood:
5	chr7:104571186..104579198-chr7:104651179..104656823,10	K562	blood:

Variant related genes	Relation type
ENSG00000225329	TF binding region
ENSG00000228393	Chromatin interaction
ENSG00000237513	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000225329	Chromatin interaction
ENSG00000005483	Chromatin interaction

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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3421532	chr7:104571416-104575714	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104558400-104571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104562600-104571800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:104563800-104571800	Weak transcription	Fetal Heart	heart
4	chr7:104563800-104571800	Weak transcription	Right Atrium	heart
5	chr7:104563800-104571800	Weak transcription	Hela-S3	cervix
6	chr7:104563800-104573400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:104564000-104571800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:104564000-104571800	Weak transcription	Lung	lung
9	chr7:104564000-104572000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:104564000-104574600	Weak transcription	HSMM	muscle
11	chr7:104567200-104575200	Enhancers	Fetal Intestine Small	intestine
12	chr7:104568000-104571600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:104568000-104571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:104568000-104571600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:104568000-104571600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:104568000-104571600	Weak transcription	Pancreas	Pancrea
17	chr7:104568000-104573400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:104568200-104571600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:104568200-104571600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:104568200-104571600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:104568200-104571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:104568200-104571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:104568200-104573000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:104568400-104571600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:104568400-104571600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:104569400-104571600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:104569800-104571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:104569800-104571600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:104569800-104571600	Weak transcription	Gastric	stomach
30	chr7:104569800-104571800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:104569800-104580600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:104569800-104584000	Weak transcription	Esophagus	oesophagus
33	chr7:104570000-104573400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:104570200-104573400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr7:104570200-104573400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:104570200-104574400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:104570400-104572200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:104570400-104575400	Enhancers	Primary B cells from peripheral blood	blood
39	chr7:104570600-104571600	Weak transcription	Spleen	Spleen
40	chr7:104570600-104572800	Enhancers	Primary B cells from cord blood	blood
41	chr7:104570600-104575400	Enhancers	Stomach Mucosa	stomach
42	chr7:104570800-104571800	Weak transcription	Small Intestine	intestine
43	chr7:104571000-104572200	Enhancers	HepG2	liver
44	chr7:104571200-104573000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:104571400-104572000	Enhancers	Fetal Kidney	kidney
46	chr7:104571400-104572200	Enhancers	Fetal Muscle Leg	muscle
47	chr7:104571400-104572200	Enhancers	Stomach Smooth Muscle	stomach
48	chr7:104571400-104572400	Enhancers	Colonic Mucosa	Colon
49	chr7:104571400-104574200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr7:104571400-104575200	Enhancers	Fetal Intestine Large	intestine

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