Variant report

Variant	rs17419569
Chromosome Location	chr2:96868081-96868082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96866437..96868350-chr2:96953676..96955181,2	K562	blood:
2	chr2:96866562..96869403-chr2:96928080..96929883,2	K562	blood:
3	chr2:96859652..96863032-chr2:96865048..96868504,3	MCF-7	breast:
4	chr2:96849954..96852310-chr2:96867571..96870089,2	K562	blood:

Variant related genes	Relation type
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11539221	0.88[EUR][1000 genomes]
rs11539223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11900551	0.91[ASN][1000 genomes]
rs11900808	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs11903257	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs17119362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119627	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs29000576	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.96[EUR][1000 genomes]
rs55908923	0.96[EUR][1000 genomes]
rs56289221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67677651	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72825836	0.96[EUR][1000 genomes]
rs72825837	0.96[EUR][1000 genomes]
rs72825845	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72825861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937811	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9333567	0.82[EUR][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	chr2:96849600-96872600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:96849800-96871000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:96851000-96869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:96859000-96870800	Weak transcription	Fetal Brain Male	brain
5	chr2:96859000-96870800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:96859000-96873200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:96860200-96869400	Weak transcription	Aorta	Aorta
8	chr2:96860200-96871200	Weak transcription	Fetal Kidney	kidney
9	chr2:96861000-96871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:96861200-96869600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:96861200-96869800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:96861400-96868800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:96861400-96868800	Weak transcription	Dnd41	blood
14	chr2:96861400-96869200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:96861400-96869200	Weak transcription	Thymus	Thymus
16	chr2:96861400-96870000	Weak transcription	Fetal Brain Female	brain
17	chr2:96861400-96871000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:96861400-96872200	Weak transcription	Placenta	Placenta
19	chr2:96861400-96872800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:96861400-96872800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:96861600-96869400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:96861600-96869400	Weak transcription	Fetal Stomach	stomach
23	chr2:96861600-96870200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:96861800-96869000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:96861800-96869800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:96861800-96870600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:96861800-96870800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:96862200-96868600	Weak transcription	Colonic Mucosa	Colon
29	chr2:96862200-96869600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:96862200-96870600	Weak transcription	NH-A	brain
31	chr2:96863400-96868400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:96863400-96869400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:96863800-96868800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:96863800-96870200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:96864000-96869200	Enhancers	Fetal Heart	heart
36	chr2:96864200-96870600	Enhancers	Brain Anterior Caudate	brain
37	chr2:96864200-96871800	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:96864200-96872600	Enhancers	Brain Substantia Nigra	brain
39	chr2:96864400-96868200	Enhancers	Brain Hippocampus Middle	brain
40	chr2:96864600-96868800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:96865000-96868200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:96865200-96871200	Enhancers	Stomach Mucosa	stomach
43	chr2:96865400-96868200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:96865400-96868200	Weak transcription	Hela-S3	cervix
45	chr2:96865400-96870600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:96865600-96868200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:96865600-96870800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:96865800-96868400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:96865800-96868600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:96865800-96868600	Enhancers	Primary T helper cells fromperipheralblood	blood

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