Variant report

Variant	rs4907238
Chromosome Location	chr2:97197195-97197196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97172045..97174084-chr2:97196343..97197852,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163121	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1122238	0.84[ASN][1000 genomes]
rs2278563	0.80[AMR][1000 genomes]
rs4907236	0.83[ASN][1000 genomes]
rs4907237	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4907238	CIAO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97192000-97197200	Weak transcription	Pancreas	Pancrea
2	chr2:97193200-97201000	Enhancers	NHDF-Ad	bronchial
3	chr2:97193600-97197400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:97193600-97197400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:97193800-97197400	Enhancers	Fetal Muscle Leg	muscle
6	chr2:97193800-97198400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:97194000-97197200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:97194000-97197400	Enhancers	Right Ventricle	heart
9	chr2:97194000-97197600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:97194000-97197600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:97194000-97202600	Enhancers	Placenta	Placenta
12	chr2:97194200-97197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:97194200-97197400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:97194400-97197200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:97194400-97197400	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:97194400-97197400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:97194400-97197400	Enhancers	GM12878-XiMat	blood
18	chr2:97194400-97197600	Enhancers	Right Atrium	heart
19	chr2:97194400-97202400	Enhancers	Lung	lung
20	chr2:97194600-97197200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:97194600-97197200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:97194600-97197200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:97194600-97197200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:97194600-97197200	Weak transcription	Stomach Mucosa	stomach
25	chr2:97194600-97197400	Weak transcription	Fetal Brain Female	brain
26	chr2:97194600-97197400	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:97194800-97197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:97194800-97197200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:97194800-97197200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:97194800-97197200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:97194800-97197200	Weak transcription	Fetal Lung	lung
32	chr2:97194800-97197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:97194800-97197400	Weak transcription	Colonic Mucosa	Colon
34	chr2:97194800-97197400	Weak transcription	Fetal Brain Male	brain
35	chr2:97194800-97197400	Weak transcription	Psoas Muscle	Psoas
36	chr2:97194800-97197400	Weak transcription	Small Intestine	intestine
37	chr2:97194800-97199000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:97194800-97202000	Weak transcription	Liver	Liver
39	chr2:97195000-97197200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:97195000-97197200	Weak transcription	Primary T cells from cord blood	blood
41	chr2:97195000-97197200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr2:97195000-97197200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:97195000-97197200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:97195000-97197200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:97195000-97197200	Weak transcription	Brain Angular Gyrus	brain
46	chr2:97195000-97197200	Weak transcription	Brain Anterior Caudate	brain
47	chr2:97195000-97197200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:97195000-97197200	Weak transcription	Gastric	stomach
49	chr2:97195000-97197400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:97195200-97197200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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