Variant report

Variant	rs185018812
Chromosome Location	chr7:99635436-99635437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99634823..99637646-chr7:99648903..99650452,2	K562	blood:
2	chr7:99634010..99640137-chr7:99643841..99648236,8	K562	blood:
3	chr7:99612213..99613947-chr7:99635282..99637746,3	K562	blood:
4	chr7:99631794..99640933-chr7:99644912..99651639,12	K562	blood:
5	chr7:99633170..99637307-chr7:99685245..99688799,3	K562	blood:
6	chr7:99611956..99613934-chr7:99634714..99636555,2	K562	blood:
7	chr7:99613150..99615882-chr7:99635213..99637801,4	MCF-7	breast:
8	chr7:99634660..99636728-chr7:99636829..99638955,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166529	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000168090	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	esv1824630	chr7:99614770-99639445	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv819817	chr7:99634978-99635910	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99614200-99639000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99615200-99636400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:99615200-99637800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:99615400-99639600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:99616400-99636200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:99618800-99636400	Strong transcription	Dnd41	blood
7	chr7:99619000-99636000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:99619200-99636200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:99619200-99636200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:99619200-99636400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:99619200-99636400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:99619200-99636800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:99619400-99635600	Strong transcription	Thymus	Thymus
14	chr7:99619400-99636200	Strong transcription	Fetal Brain Female	brain
15	chr7:99619400-99636400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:99619400-99637200	Strong transcription	Brain Germinal Matrix	brain
17	chr7:99619600-99636200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:99619800-99636200	Strong transcription	Brain Hippocampus Middle	brain
19	chr7:99620000-99636200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:99620000-99636400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr7:99620000-99636400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr7:99620600-99636400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:99621400-99636600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:99623200-99636000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:99626600-99636400	Strong transcription	Fetal Thymus	thymus
26	chr7:99626800-99636200	Strong transcription	Primary T cells from cord blood	blood
27	chr7:99627200-99635600	Strong transcription	GM12878-XiMat	blood
28	chr7:99627400-99636200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr7:99627400-99636400	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr7:99628000-99636000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:99628000-99636000	Strong transcription	NHEK	skin
32	chr7:99628600-99635600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:99629200-99637800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:99629600-99638200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:99629600-99639000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:99631400-99636200	Strong transcription	Fetal Muscle Leg	muscle
37	chr7:99631400-99636200	Strong transcription	NH-A	brain
38	chr7:99631600-99635800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:99631800-99636600	Strong transcription	Fetal Stomach	stomach
40	chr7:99631800-99647000	Weak transcription	Colonic Mucosa	Colon
41	chr7:99632200-99637600	Weak transcription	Aorta	Aorta
42	chr7:99632200-99639000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:99632400-99640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:99632600-99637800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:99632600-99646600	Weak transcription	Fetal Heart	heart
46	chr7:99632800-99636000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:99632800-99638200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:99633000-99638400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:99633000-99646600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:99633400-99636200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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