Variant report

Variant	rs192229437
Chromosome Location	chr7:104572949-104572950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104570950..104573413-chr7:104580025..104582292,3	K562	blood:
2	chr7:104571417..104573413-chr7:104580025..104582244,2	K562	blood:
3	chr7:104570597..104573173-chr7:104577411..104579738,2	K562	blood:
4	chr7:104571186..104579198-chr7:104651179..104656823,10	K562	blood:
5	chr7:104572713..104579198-chr7:104651179..104657046,8	K562	blood:
6	chr7:104571846..104574043-chr7:104575811..104577393,2	K562	blood:

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000237513	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
3	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104563800-104573400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:104564000-104574600	Weak transcription	HSMM	muscle
3	chr7:104567200-104575200	Enhancers	Fetal Intestine Small	intestine
4	chr7:104568000-104573400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:104568200-104573000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:104569800-104580600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:104569800-104584000	Weak transcription	Esophagus	oesophagus
8	chr7:104570000-104573400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104570200-104573400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr7:104570200-104573400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:104570200-104574400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:104570400-104575400	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:104570600-104575400	Enhancers	Stomach Mucosa	stomach
14	chr7:104571200-104573000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:104571400-104574200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr7:104571400-104575200	Enhancers	Fetal Intestine Large	intestine
17	chr7:104571600-104573400	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:104572000-104573000	Weak transcription	Adipose Nuclei	Adipose
19	chr7:104572000-104573400	Weak transcription	Fetal Kidney	kidney
20	chr7:104572000-104573400	Weak transcription	Gastric	stomach
21	chr7:104572000-104573400	Weak transcription	Pancreas	Pancrea
22	chr7:104572000-104573600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:104572000-104573600	Weak transcription	Fetal Heart	heart
24	chr7:104572200-104573400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:104572200-104573400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:104572200-104573400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:104572200-104573400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:104572200-104573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:104572200-104573400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:104572200-104573400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:104572200-104573400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:104572200-104573400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:104572200-104573400	Weak transcription	Brain Substantia Nigra	brain
34	chr7:104572200-104573400	Weak transcription	Fetal Lung	lung
35	chr7:104572200-104573400	Weak transcription	Spleen	Spleen
36	chr7:104572200-104573600	Weak transcription	Small Intestine	intestine
37	chr7:104572200-104574000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:104572200-104577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:104572200-104580000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:104572200-104580800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:104572600-104573400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:104572600-104573600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:104572800-104573000	Enhancers	Stomach Smooth Muscle	stomach
44	chr7:104572800-104573600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:104572800-104573600	Enhancers	Colonic Mucosa	Colon
46	chr7:104572800-104573800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:104572800-104574400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr7:104572800-104579400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links