Variant report

Variant	rs10167376
Chromosome Location	chr2:97271385-97271386
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97269473..97271638-chr2:97404125..97406329,2	MCF-7	breast:
2	chr2:97270355..97272803-chr2:97296227..97299529,3	K562	blood:
3	chr2:97269575..97272351-chr2:97300593..97303673,3	K562	blood:
4	chr2:97269779..97272060-chr2:97291956..97293791,2	MCF-7	breast:
5	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
6	chr2:97270035..97271619-chr2:97273152..97275931,2	K562	blood:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000114988	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10194350	1.00[AMR][1000 genomes]
rs10205661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208112	1.00[AMR][1000 genomes]
rs13405293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28438599	1.00[AMR][1000 genomes]
rs6705228	0.85[AFR][1000 genomes]
rs72941221	1.00[AMR][1000 genomes]
rs72941290	1.00[AMR][1000 genomes]
rs72942905	1.00[AMR][1000 genomes]
rs7585764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7599851	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97248400-97283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97256200-97282400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:97256600-97274200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:97256600-97283800	Strong transcription	Placenta	Placenta
5	chr2:97256600-97287000	Strong transcription	Dnd41	blood
6	chr2:97256800-97274200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:97257000-97279600	Strong transcription	Fetal Lung	lung
8	chr2:97257400-97272200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:97257400-97272400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:97257400-97273600	Strong transcription	Left Ventricle	heart
11	chr2:97257400-97274000	Strong transcription	Osteobl	bone
12	chr2:97257400-97274200	Strong transcription	HSMMtube	muscle
13	chr2:97257400-97279600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:97257400-97279600	Strong transcription	Primary hematopoietic stem cells	blood
15	chr2:97257400-97279600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:97257400-97279800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:97257400-97279800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr2:97257400-97280000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:97257400-97280800	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:97257400-97282400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:97257600-97280800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:97257600-97286400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:97257800-97271800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:97257800-97273000	Strong transcription	Adipose Nuclei	Adipose
25	chr2:97257800-97279400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:97257800-97279400	Strong transcription	Brain Germinal Matrix	brain
27	chr2:97257800-97279600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:97257800-97286800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:97258000-97279400	Strong transcription	Ovary	ovary
30	chr2:97258000-97279400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:97258000-97283200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:97258200-97283200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:97258200-97286400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:97258400-97272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:97258400-97272600	Strong transcription	Colon Smooth Muscle	Colon
37	chr2:97258600-97272000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:97258600-97279800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr2:97258800-97271800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:97258800-97279600	Strong transcription	NHLF	lung
41	chr2:97258800-97280000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:97259200-97273800	Strong transcription	HSMM	muscle
43	chr2:97260400-97272200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:97261200-97279600	Strong transcription	Primary T cells from cord blood	blood
45	chr2:97261200-97281000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
47	chr2:97261400-97272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:97261400-97279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:97261400-97282400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:97261600-97283000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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