Variant report

Variant	rs2884208
Chromosome Location	chr2:10440987-10440988
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	MAX	chr2:10440682-10444624	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
2	MBD4	chr2:10440973-10441963	HepG2	liver:	n/a	n/a
3	MAX	chr2:10440984-10445011	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
4	HEY1	chr2:10440976-10443359	HepG2	liver:	n/a	chr2:10442577-10442592 chr2:10442848-10442863
5	MBD4	chr2:10440931-10442910	HepG2	liver:	n/a	n/a
6	NFIC	chr2:10440966-10442231	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10424782..10426457-chr2:10440963..10442554,2	K562	blood:
2	chr2:10440329..10443014-chr2:10447614..10450153,3	K562	blood:
3	chr2:10438477..10441704-chr2:10442402..10444544,4	MCF-7	breast:
4	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
5	chr2:10426724..10428299-chr2:10440170..10442093,2	K562	blood:
6	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
7	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:
8	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:

Variant related genes	Relation type
HPCAL1	TF binding region
ENSG00000206898	TF binding region
ENSG00000206898	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2192670	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4668676	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs62128554	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432090	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6432091	0.92[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2884208	IAH1	cis	parietal	SCAN
rs2884208	PDIA6	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10435800-10441000	Weak transcription	Stomach Mucosa	stomach
2	chr2:10436000-10442000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:10436600-10442200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:10437800-10441600	Weak transcription	Spleen	Spleen
5	chr2:10437800-10441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:10438400-10442000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:10438400-10442000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:10438600-10441000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:10438600-10441000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:10438600-10441000	Weak transcription	Small Intestine	intestine
11	chr2:10438600-10441000	Weak transcription	Thymus	Thymus
12	chr2:10438600-10441200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:10438600-10441200	Weak transcription	Esophagus	oesophagus
14	chr2:10438600-10441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:10438600-10441400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:10438600-10441400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:10438600-10441600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:10438600-10441800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:10438600-10441800	Weak transcription	Lung	lung
20	chr2:10438600-10442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10438600-10442000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:10438600-10442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:10438600-10442000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:10438600-10442000	Weak transcription	Dnd41	blood
25	chr2:10438600-10442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:10438600-10442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:10438600-10442200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:10438600-10442200	Weak transcription	Psoas Muscle	Psoas
29	chr2:10438600-10442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:10438800-10441200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:10438800-10441400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:10438800-10441400	Weak transcription	Placenta	Placenta
33	chr2:10438800-10441600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:10438800-10442000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:10438800-10442000	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:10438800-10442000	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:10438800-10442200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:10438800-10442200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:10438800-10442200	Weak transcription	HMEC	breast
40	chr2:10438800-10442200	Weak transcription	HSMMtube	muscle
41	chr2:10438800-10442200	Weak transcription	NHDF-Ad	bronchial
42	chr2:10438800-10442200	Weak transcription	NHEK	skin
43	chr2:10438800-10442200	Weak transcription	Osteobl	bone
44	chr2:10438800-10442600	Weak transcription	NHLF	lung
45	chr2:10439000-10441000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:10439000-10441000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:10439000-10441400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:10439000-10441400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:10439000-10441800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:10439000-10442000	Weak transcription	HUVEC	blood vessel

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