Variant report

Variant	rs201138053
Chromosome Location	chr7:99956383-99956384
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99955250..99958076-chr7:99963058..99965429,2	K562	blood:
2	chr7:99955962..99956763-chr7:100004904..100005531,2	MCF-7	breast:
3	chr7:99956089..99957911-chr7:100026072..100027787,2	K562	blood:
4	chr7:99955988..99956495-chr7:99971050..99971685,2	MCF-7	breast:
5	chr7:99953591..99956597-chr7:99962899..99966077,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000085514	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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
5	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
6	nsv888775	chr7:99940307-99961194	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
7	esv3377501	chr7:99955417-99960583	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99934400-99963400	Weak transcription	Psoas Muscle	Psoas
3	chr7:99934800-99963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:99935400-99962200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:99935400-99962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
7	chr7:99938600-99967400	Strong transcription	Fetal Brain Female	brain
8	chr7:99938800-99962400	Strong transcription	Dnd41	blood
9	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
10	chr7:99942600-99960800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:99942800-99963600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:99942800-99966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:99942800-99966400	Strong transcription	A549	lung
14	chr7:99942800-99967000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:99942800-99967400	Strong transcription	Fetal Intestine Small	intestine
16	chr7:99943000-99957200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:99943200-99962000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:99943200-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:99943200-99965400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:99943400-99960600	Strong transcription	Brain Angular Gyrus	brain
21	chr7:99943400-99961400	Strong transcription	Liver	Liver
22	chr7:99943400-99961600	Strong transcription	HepG2	liver
23	chr7:99943400-99962400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr7:99943400-99963200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:99943400-99963200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:99943400-99966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:99943400-99967200	Strong transcription	Fetal Intestine Large	intestine
28	chr7:99943600-99959600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr7:99943600-99962200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:99943600-99962400	Strong transcription	Brain Hippocampus Middle	brain
31	chr7:99943600-99962400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr7:99943600-99962400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr7:99943800-99960000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr7:99943800-99960400	Strong transcription	NHLF	lung
35	chr7:99943800-99960600	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr7:99943800-99960800	Strong transcription	Left Ventricle	heart
37	chr7:99943800-99962400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:99943800-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:99943800-99963200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:99943800-99963800	Strong transcription	Placenta	Placenta
41	chr7:99944000-99960200	Strong transcription	Gastric	stomach
42	chr7:99944000-99961400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:99944000-99961600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:99944000-99962400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr7:99944000-99967000	Strong transcription	Brain Anterior Caudate	brain
46	chr7:99944200-99959400	Strong transcription	Colonic Mucosa	Colon
47	chr7:99944200-99959800	Strong transcription	Esophagus	oesophagus
48	chr7:99944200-99960200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:99944200-99961400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:99944200-99961600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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