Variant report

Variant	rs3762535
Chromosome Location	chr2:9773586-9773587
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	RFX5	chr2:9770077-9773741	IMR90	lung:	n/a	chr2:9771393-9771401 chr2:9771395-9771404 chr2:9771394-9771409 chr2:9771231-9771240 chr2:9771392-9771406 chr2:9771394-9771409 chr2:9771391-9771406 chr2:9771394-9771409 chr2:9771393-9771410
2	RFX5	chr2:9765887-9774101	SK-N-SH	brain:	n/a	chr2:9771393-9771401 chr2:9771395-9771404 chr2:9771394-9771409 chr2:9771231-9771240 chr2:9771392-9771406 chr2:9771394-9771409 chr2:9771391-9771406 chr2:9771394-9771409 chr2:9771393-9771410

No.	Distal block	Cell Line	Cell type
1	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
2	chr2:9771970..9774412-chr2:9797666..9799794,2	K562	blood:
3	chr2:9772230..9774093-chr2:9892101..9894340,2	MCF-7	breast:
4	chr2:9772257..9774601-chr2:9785690..9787486,2	K562	blood:
5	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

Variant related genes	Relation type
YWHAQ	TF binding region
ENSG00000240687	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10427360	0.99[ASN][1000 genomes]
rs10495569	0.92[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs12620485	0.99[ASN][1000 genomes]
rs1806668	0.91[ASN][1000 genomes]
rs1976902	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs2091210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4145375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4668626	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4669402	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4669403	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4669404	0.81[ASN][1000 genomes]
rs56068986	0.99[ASN][1000 genomes]
rs6432026	1.00[ASN][1000 genomes]
rs6432027	0.92[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs6715748	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6732745	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs73913149	0.95[ASN][1000 genomes]
rs73913150	0.88[ASN][1000 genomes]
rs73913152	0.88[ASN][1000 genomes]
rs7567578	0.99[ASN][1000 genomes]
rs884427	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3762535	IAH1	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9771600-9777800	Weak transcription	Lung	lung
2	chr2:9771800-9773600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:9771800-9773600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:9771800-9773600	Enhancers	Placenta	Placenta
5	chr2:9771800-9773800	Enhancers	Fetal Heart	heart
6	chr2:9771800-9774200	Enhancers	Fetal Muscle Leg	muscle
7	chr2:9772000-9773600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:9772000-9773600	Enhancers	NHDF-Ad	bronchial
9	chr2:9772000-9777800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:9772000-9778400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:9772200-9776600	Weak transcription	Brain Angular Gyrus	brain
12	chr2:9772200-9777000	Weak transcription	K562	blood
13	chr2:9772200-9777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:9772200-9781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:9772400-9773600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:9772400-9773600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:9772400-9773600	Enhancers	HSMM	muscle
18	chr2:9772400-9776200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:9772400-9776200	Weak transcription	Brain Anterior Caudate	brain
20	chr2:9772400-9776400	Weak transcription	HMEC	breast
21	chr2:9772400-9777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:9772400-9777200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:9772400-9777600	Weak transcription	Hela-S3	cervix
24	chr2:9772400-9778000	Weak transcription	Right Atrium	heart
25	chr2:9772600-9774200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:9772600-9776200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:9772600-9776400	Weak transcription	Brain Substantia Nigra	brain
28	chr2:9772600-9776800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:9772600-9777000	Weak transcription	NH-A	brain
30	chr2:9772600-9777600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:9772600-9777800	Weak transcription	Left Ventricle	heart
32	chr2:9772800-9774000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:9772800-9777000	Weak transcription	NHEK	skin
34	chr2:9772800-9777200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:9772800-9777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:9772800-9780200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:9773000-9774400	Weak transcription	Fetal Intestine Large	intestine
38	chr2:9773000-9776200	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:9773000-9776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:9773000-9776800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:9773000-9776800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:9773000-9777000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:9773000-9777000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:9773000-9777600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:9773000-9777600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:9773000-9778200	Weak transcription	Right Ventricle	heart
47	chr2:9773000-9778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:9773000-9778400	Weak transcription	Fetal Intestine Small	intestine
49	chr2:9773200-9773600	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:9773200-9774200	Weak transcription	A549	lung

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