Variant report

Variant	rs12621688
Chromosome Location	chr2:96967633-96967634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96930148..96938607-chr2:96966008..96973188,21	MCF-7	breast:
2	chr2:96937785..96940633-chr2:96966720..96968269,2	K562	blood:
3	chr2:96953953..96959571-chr2:96963290..96968398,7	MCF-7	breast:
4	chr2:96928652..96934635-chr2:96966746..96973769,11	K562	blood:
5	chr2:96960681..96962705-chr2:96965518..96967650,2	K562	blood:

Variant related genes	Relation type
ENSG00000144028	Chromatin interaction
ENSG00000144021	Chromatin interaction
ENSG00000135956	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12611936	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12612136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12614113	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs12614623	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12616326	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12619114	1.00[AMR][1000 genomes]
rs12619490	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12619573	1.00[AMR][1000 genomes]
rs12619919	1.00[AMR][1000 genomes]
rs12620576	1.00[AMR][1000 genomes]
rs12620768	1.00[AMR][1000 genomes]
rs12621163	1.00[AMR][1000 genomes]
rs12621619	1.00[AMR][1000 genomes]
rs2276647	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2290908	1.00[AMR][1000 genomes]
rs3813659	1.00[AMR][1000 genomes]
rs3813660	1.00[AMR][1000 genomes]
rs56742757	0.96[ASN][1000 genomes]
rs57213829	1.00[AMR][1000 genomes]
rs57248244	1.00[ASN][1000 genomes]
rs57319731	1.00[AMR][1000 genomes]
rs57367779	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57477571	1.00[AMR][1000 genomes]
rs58132887	1.00[AMR][1000 genomes]
rs58152078	1.00[AMR][1000 genomes]
rs59168739	1.00[AMR][1000 genomes]
rs59525841	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59621486	1.00[AMR][1000 genomes]
rs59911784	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59939559	1.00[AMR][1000 genomes]
rs60013962	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60020980	1.00[AMR][1000 genomes]
rs60302421	1.00[AMR][1000 genomes]
rs60596893	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60893927	1.00[AMR][1000 genomes]
rs61096003	1.00[AMR][1000 genomes];1.00[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	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
8	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
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr2:96932800-96970400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:96933200-96970200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:96933200-96970400	Weak transcription	Right Atrium	heart
4	chr2:96933400-96968800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:96933400-96969000	Strong transcription	Left Ventricle	heart
6	chr2:96933400-96969200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr2:96933400-96969400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:96933400-96969400	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr2:96933400-96970200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:96933400-96970200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:96933400-96970200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:96933400-96970200	Strong transcription	Fetal Lung	lung
13	chr2:96933400-96970200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:96933600-96969400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:96933600-96969400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:96933600-96969400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:96933600-96969600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:96933600-96969600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:96933600-96969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:96933600-96969800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:96933600-96969800	Strong transcription	Fetal Intestine Small	intestine
22	chr2:96933600-96969800	Strong transcription	Fetal Stomach	stomach
23	chr2:96933600-96969800	Strong transcription	Hela-S3	cervix
24	chr2:96933600-96970000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:96933600-96970000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:96933600-96970000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:96933600-96970200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:96933600-96970200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:96933600-96970200	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:96933600-96970200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:96933800-96968000	Strong transcription	Fetal Thymus	thymus
32	chr2:96933800-96969200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:96933800-96969400	Strong transcription	Primary T cells from cord blood	blood
34	chr2:96933800-96969400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:96933800-96969400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:96933800-96969400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:96933800-96969800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:96933800-96969800	Strong transcription	Fetal Intestine Large	intestine
39	chr2:96934200-96969400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:96934400-96969800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:96934600-96970000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:96936400-96969000	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr2:96936400-96969400	Strong transcription	Brain Hippocampus Middle	brain
44	chr2:96936400-96969400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:96936400-96969600	Strong transcription	Fetal Brain Female	brain
46	chr2:96936400-96970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:96936400-96970000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:96936800-96969400	Strong transcription	Thymus	Thymus
49	chr2:96936800-96970200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:96937600-96970000	Strong transcription	A549	lung

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