Variant report

Variant	rs542868036
Chromosome Location	chr2:97425279-97425280
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97407779..97410358-chr2:97422374..97426417,4	K562	blood:
2	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
3	chr2:97358845..97361710-chr2:97424992..97426847,2	K562	blood:
4	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
5	chr2:97422064..97424734-chr2:97424939..97426592,2	MCF-7	breast:
6	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
7	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
8	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
9	chr2:97423625..97426138-chr2:97484337..97486226,2	K562	blood:
10	chr2:97413080..97414856-chr2:97424124..97425646,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114988	Chromatin interaction
ENSG00000249715	Chromatin interaction
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS 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	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv3335616	chr2:97425267-97425460	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97417600-97425400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97420000-97425400	Weak transcription	Pancreas	Pancrea
3	chr2:97420600-97425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:97420600-97426000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:97420600-97426000	Weak transcription	Osteobl	bone
6	chr2:97422800-97425800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:97423200-97426000	Enhancers	Fetal Intestine Small	intestine
8	chr2:97423600-97426000	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:97423600-97426000	Enhancers	Fetal Intestine Large	intestine
10	chr2:97423800-97426200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:97424000-97425400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:97424200-97425400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:97424200-97425400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:97424200-97425400	Weak transcription	Thymus	Thymus
15	chr2:97424200-97425400	Weak transcription	NHEK	skin
16	chr2:97424200-97425800	Weak transcription	HMEC	breast
17	chr2:97424200-97426000	Weak transcription	Liver	Liver
18	chr2:97424400-97425600	Weak transcription	Fetal Kidney	kidney
19	chr2:97424400-97425800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:97424600-97426000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:97424600-97426000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:97424600-97426000	Enhancers	Stomach Mucosa	stomach
23	chr2:97424800-97425800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:97424800-97425800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:97424800-97425800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:97424800-97425800	Enhancers	A549	lung
27	chr2:97424800-97426000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:97424800-97426000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:97424800-97426000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:97424800-97426000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:97424800-97426000	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:97424800-97426000	Enhancers	GM12878-XiMat	blood
33	chr2:97424800-97426000	Enhancers	K562	blood
34	chr2:97424800-97426200	Enhancers	Esophagus	oesophagus
35	chr2:97425000-97425400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:97425000-97425600	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr2:97425000-97425800	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:97425000-97425800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:97425000-97425800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:97425000-97426000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:97425000-97426000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:97425000-97426000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:97425000-97426000	Enhancers	Primary B cells from peripheral blood	blood
44	chr2:97425000-97426000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:97425000-97426000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:97425000-97426000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:97425000-97426000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:97425000-97426000	Enhancers	Colonic Mucosa	Colon
49	chr2:97425000-97426000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr2:97425000-97426200	Enhancers	Sigmoid Colon	Sigmoid Colon

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