Variant report

Variant	rs10182438
Chromosome Location	chr2:231277567-231277568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:231277504-231277793	K562	blood:	n/a	n/a
2	GABPA	chr2:231277481-231277946	K562	blood:	n/a	n/a
3	TBL1XR1	chr2:231277516-231277594	K562	blood:	n/a	n/a
4	POLR2A	chr2:231277476-231277804	K562	blood:	n/a	n/a
5	IRF1	chr2:231277321-231277838	K562	blood:	n/a	chr2:231277717-231277731
6	ZC3H11A	chr2:231277529-231277576	K562	blood:	n/a	n/a
7	RCOR1	chr2:231277563-231277915	K562	blood:	n/a	n/a
8	CBX3	chr2:231277527-231277835	K562	blood:	n/a	n/a
9	POLR2A	chr2:231277441-231277571	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr2:231277481-231277918	K562	blood:	n/a	n/a
11	ZNF263	chr2:231277426-231277937	HEK293-T-REx	kidney:	n/a	n/a
12	MYC	chr2:231277441-231277852	K562	blood:	n/a	n/a
13	CTCF	chr2:231277520-231277670	GM12871	blood:	n/a	n/a
14	MAX	chr2:231277478-231277769	K562	blood:	n/a	n/a
15	EGR1	chr2:231277520-231277786	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:231276297..231278950-chr2:231279090..231280823,2	MCF-7	breast:
2	chr2:231269734..231271710-chr2:231274995..231278115,3	K562	blood:
3	chr2:231276390..231278062-chr2:231285132..231287454,2	K562	blood:
4	chr2:231276236..231278325-chr2:231279653..231283011,3	K562	blood:

No data

Variant related genes	Relation type
SP100	TF binding region
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10191957	0.89[ASN][1000 genomes]
rs10205096	0.89[ASN][1000 genomes]
rs1156156	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13398034	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13411586	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1427283	0.89[ASN][1000 genomes]
rs1559987	0.83[ASN][1000 genomes]
rs2255345	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3754945	0.89[ASN][1000 genomes]
rs3893833	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs3893834	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs58941251	0.87[ASN][1000 genomes]
rs60304451	0.89[ASN][1000 genomes]
rs62192251	0.89[ASN][1000 genomes]
rs62193374	0.87[ASN][1000 genomes]
rs62193375	0.89[ASN][1000 genomes]
rs62193377	0.87[ASN][1000 genomes]
rs62193379	0.87[ASN][1000 genomes]
rs890674	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9678342	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv521344	chr2:231267925-231281286	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10182438	POLR2A	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231276000-231277600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr2:231276000-231277600	Active TSS	Rectal Smooth Muscle	rectum
3	chr2:231276200-231277800	Active TSS	Hela-S3	cervix
4	chr2:231276400-231277600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:231276800-231277600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:231276800-231278000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr2:231277000-231277600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr2:231277000-231277600	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr2:231277000-231277800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr2:231277000-231278000	Enhancers	Spleen	Spleen
11	chr2:231277000-231278200	Enhancers	Fetal Heart	heart
12	chr2:231277000-231278200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:231277200-231277600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:231277200-231277600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:231277200-231277600	Enhancers	Brain Substantia Nigra	brain
16	chr2:231277200-231277600	Enhancers	Fetal Intestine Large	intestine
17	chr2:231277200-231277600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:231277200-231277600	Enhancers	Pancreas	Pancrea
19	chr2:231277200-231277600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:231277200-231277600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr2:231277200-231277600	Enhancers	Thymus	Thymus
22	chr2:231277200-231277800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:231277200-231277800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:231277200-231277800	Enhancers	Brain Anterior Caudate	brain
25	chr2:231277200-231277800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:231277200-231277800	Enhancers	Fetal Thymus	thymus
27	chr2:231277200-231277800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:231277200-231277800	Flanking Active TSS	K562	blood
29	chr2:231277200-231278000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:231277200-231278000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr2:231277200-231278000	Enhancers	Left Ventricle	heart
32	chr2:231277200-231278000	Enhancers	Lung	lung
33	chr2:231277200-231278200	Enhancers	Right Ventricle	heart
34	chr2:231277200-231278400	Enhancers	Esophagus	oesophagus
35	chr2:231277200-231278400	Enhancers	Right Atrium	heart
36	chr2:231277200-231278800	Enhancers	Stomach Mucosa	stomach
37	chr2:231277200-231278800	Weak transcription	HMEC	breast
38	chr2:231277200-231279000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:231277200-231279600	Weak transcription	NHDF-Ad	bronchial
40	chr2:231277200-231280400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:231277200-231280400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:231277200-231280400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:231277200-231280400	Weak transcription	Aorta	Aorta
44	chr2:231277200-231280400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:231277200-231280400	Weak transcription	Psoas Muscle	Psoas
46	chr2:231277200-231280400	Weak transcription	Small Intestine	intestine
47	chr2:231277200-231280400	Weak transcription	HSMM	muscle
48	chr2:231277200-231280400	Weak transcription	HSMMtube	muscle
49	chr2:231277200-231280400	Weak transcription	NH-A	brain
50	chr2:231277200-231280800	Weak transcription	Brain Inferior Temporal Lobe	brain

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