Variant report

Variant	rs573405911
Chromosome Location	chr2:97465610-97465611
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97302394..97304035-chr2:97465229..97467150,2	K562	blood:
2	chr2:97301902..97304307-chr2:97465520..97468347,2	MCF-7	breast:
3	chr2:97425052..97427077-chr2:97465470..97467876,3	MCF-7	breast:
4	chr2:97460207..97462651-chr2:97465343..97467859,2	MCF-7	breast:
5	chr2:97214331..97216349-chr2:97465039..97467307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000158158	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	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
8	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
9	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
10	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
11	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
12	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv3365153	chr2:97465325-97469223	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
2	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:97442800-97466600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:97454400-97466400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:97454600-97467000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:97454600-97481000	Weak transcription	NHEK	skin
8	chr2:97454800-97466400	Weak transcription	HSMM	muscle
9	chr2:97454800-97466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:97454800-97467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:97455000-97466600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:97455200-97477600	Weak transcription	HSMMtube	muscle
14	chr2:97455400-97466400	Weak transcription	Stomach Mucosa	stomach
15	chr2:97455400-97477200	Weak transcription	Psoas Muscle	Psoas
16	chr2:97455400-97480600	Weak transcription	Hela-S3	cervix
17	chr2:97458800-97467200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:97458800-97467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:97459400-97466400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:97459800-97466200	Weak transcription	HepG2	liver
21	chr2:97459800-97466600	Weak transcription	Fetal Lung	lung
22	chr2:97460600-97471200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:97462200-97467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:97462600-97465800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:97462600-97465800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:97462600-97465800	Strong transcription	Brain Cingulate Gyrus	brain
28	chr2:97462600-97466000	Strong transcription	Brain Anterior Caudate	brain
29	chr2:97462600-97466200	Strong transcription	Fetal Intestine Small	intestine
30	chr2:97462600-97466200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:97462600-97466400	Strong transcription	Fetal Stomach	stomach
32	chr2:97462600-97466400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:97462600-97466600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:97462600-97469000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:97462800-97465800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:97462800-97465800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:97462800-97465800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:97462800-97465800	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:97462800-97465800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:97462800-97465800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:97462800-97466000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:97462800-97466000	Strong transcription	Gastric	stomach
43	chr2:97462800-97466200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:97462800-97466200	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:97462800-97466200	Strong transcription	Thymus	Thymus
46	chr2:97462800-97466400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:97462800-97466400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:97462800-97466400	Strong transcription	Colonic Mucosa	Colon
49	chr2:97462800-97466400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:97462800-97466400	Strong transcription	Fetal Intestine Large	intestine

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