Variant report

Variant	rs2276651
Chromosome Location	chr2:96860971-96860972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:96860802-96861828	IMR90	lung:	n/a	n/a
2	MAFK	chr2:96860542-96861494	IMR90	lung:	n/a	chr2:96861334-96861349

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96856180..96863246-chr2:96870668..96875373,10	MCF-7	breast:

Variant related genes	Relation type
STARD7	TF binding region
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11164061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613184	1.00[EUR][1000 genomes]
rs3214060	1.00[EUR][1000 genomes]
rs3751807	0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3770239	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 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	chr2:96842600-96861600	Weak transcription	Right Atrium	heart
2	chr2:96848600-96861400	Strong transcription	Thymus	Thymus
3	chr2:96848600-96861600	Strong transcription	Fetal Stomach	stomach
4	chr2:96849200-96861400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:96849200-96861400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr2:96849200-96861600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:96849400-96861000	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:96849400-96861200	Strong transcription	Brain Hippocampus Middle	brain
9	chr2:96849600-96861000	Strong transcription	Lung	lung
10	chr2:96849600-96861400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:96849600-96861400	Strong transcription	Fetal Thymus	thymus
12	chr2:96849600-96861600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:96849600-96861600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:96849600-96862000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:96849600-96872600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:96849800-96861000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:96849800-96861200	Strong transcription	Liver	Liver
18	chr2:96849800-96861200	Strong transcription	Brain Germinal Matrix	brain
19	chr2:96849800-96861400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr2:96849800-96861400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:96849800-96861400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:96849800-96861400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:96849800-96861400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:96849800-96861400	Strong transcription	Fetal Brain Female	brain
25	chr2:96849800-96861600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:96849800-96861800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:96849800-96861800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:96849800-96862200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:96849800-96871000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:96850000-96861200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:96850000-96861200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:96850000-96861200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:96850000-96861200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr2:96850000-96861200	Strong transcription	Brain Substantia Nigra	brain
35	chr2:96850000-96861400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:96850000-96861400	Strong transcription	Primary T cells from cord blood	blood
37	chr2:96850000-96861400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:96850000-96861400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:96850000-96861400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr2:96850000-96861400	Strong transcription	Dnd41	blood
41	chr2:96850000-96861600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:96850000-96861600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:96850000-96861600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:96850000-96861800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:96850000-96861800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:96850000-96862200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:96850000-96862400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:96850200-96861200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr2:96850200-96861400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:96850400-96862000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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