Variant report

Variant	rs10181664
Chromosome Location	chr2:36783215-36783216
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	POLR2A	chr2:36779682-36783569	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr2:36782600-36785091	IMR90	lung:	n/a	n/a
3	SPI1	chr2:36783087-36783269	K562	blood:	n/a	n/a
4	POLR2A	chr2:36778965-36784323	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:36782968-36783875	HUVEC	blood vessel:	n/a	n/a
6	SPI1	chr2:36783031-36783265	K562	blood:	n/a	n/a
7	POLR2A	chr2:36783160-36783457	ProgFib	skin:	n/a	n/a
8	POLR2A	chr2:36783155-36783254	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:36782694-36783794	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr2:36782586-36784761	HUVEC	blood vessel:	n/a	n/a
11	SPI1	chr2:36783026-36783393	HL-60	blood:	n/a	n/a
12	POLR2A	chr2:36783009-36783560	U87	brain:	n/a	n/a
13	POLR2A	chr2:36778760-36784779	SK-N-SH	brain:	n/a	n/a
14	SPI1	chr2:36783035-36783332	GM12891	blood:	n/a	n/a
15	SPI1	chr2:36783075-36783385	GM12891	blood:	n/a	n/a
16	BCL3	chr2:36779978-36784433	A549	lung:	n/a	chr2:36780871-36780880 chr2:36782308-36782317
17	POLR2A	chr2:36780183-36787605	A549	lung:	n/a	n/a
18	POLR2A	chr2:36778741-36783444	HepG2	liver:	n/a	n/a
19	SPI1	chr2:36782986-36783356	HL-60	blood:	n/a	n/a
20	TAF1	chr2:36783137-36783339	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr2:36783025-36783839	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr2:36783003-36783911	U87	brain:	n/a	n/a
23	POLR2A	chr2:36783054-36783483	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36782918..36785562-chr2:36785906..36788265,2	K562	blood:
2	chr2:36781920..36784587-chr2:36788838..36790616,3	K562	blood:

Variant related genes	Relation type
ENSG00000217075	TF binding region
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10172196	0.83[CEU][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10175266	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10178965	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10180760	0.84[CEU][hapmap]
rs10180792	0.92[CHB][hapmap]
rs10189344	0.83[EUR][1000 genomes]
rs10194100	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10210291	0.84[EUR][1000 genomes]
rs11686443	0.87[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11691600	0.82[CHB][hapmap]
rs11691767	0.87[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs11693359	0.80[CEU][hapmap];0.84[CHB][hapmap]
rs12105545	0.82[CHB][hapmap];0.95[YRI][hapmap]
rs12712508	0.83[CEU][hapmap]
rs13385408	0.84[CHB][hapmap]
rs13406169	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13406184	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13410783	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1523786	0.81[CEU][hapmap]
rs1533946	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1533948	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs17019087	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs17488036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2110987	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160403	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160404	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs34425257	0.81[CEU][hapmap]
rs3755196	0.81[EUR][1000 genomes]
rs3770799	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770809	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs3770811	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs5003670	0.82[CHB][hapmap]
rs848610	0.80[CEU][hapmap]
rs848611	0.80[CEU][hapmap]
rs848639	0.80[CEU][hapmap]
rs848642	0.92[CHB][hapmap]
rs9295	0.90[EUR][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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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 miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10181664	FEZ2	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
3	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36762800-36783800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:36763200-36784200	Strong transcription	HepG2	liver
6	chr2:36763200-36785200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:36764000-36790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:36764200-36783400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:36764200-36783800	Strong transcription	Fetal Intestine Large	intestine
10	chr2:36764400-36787200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr2:36764800-36791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:36766000-36791800	Weak transcription	Esophagus	oesophagus
13	chr2:36766400-36788600	Weak transcription	Fetal Brain Male	brain
14	chr2:36766800-36783400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:36769800-36790400	Weak transcription	Spleen	Spleen
16	chr2:36771000-36789000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:36771200-36788400	Weak transcription	Stomach Mucosa	stomach
18	chr2:36771400-36802800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:36772400-36783800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr2:36772600-36784200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:36772600-36784400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:36774200-36784000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:36774200-36784200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:36774400-36789000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:36776600-36786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:36776600-36792600	Weak transcription	Right Ventricle	heart
28	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
30	chr2:36777400-36786400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:36777400-36786600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:36777400-36790600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:36777400-36795000	Weak transcription	Fetal Heart	heart
34	chr2:36777600-36783800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:36777800-36788000	Weak transcription	Brain Anterior Caudate	brain
36	chr2:36778200-36783400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:36778200-36783600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:36778200-36783600	Strong transcription	Dnd41	blood
39	chr2:36778200-36784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:36778200-36785200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:36778400-36783600	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:36778600-36790400	Weak transcription	Psoas Muscle	Psoas
43	chr2:36779200-36786400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:36779200-36786600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:36779200-36788800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:36779200-36791600	Weak transcription	Fetal Intestine Small	intestine
47	chr2:36779400-36786600	Weak transcription	Hela-S3	cervix
48	chr2:36779400-36788400	Weak transcription	Aorta	Aorta
49	chr2:36779400-36788400	Weak transcription	Ovary	ovary
50	chr2:36779400-36789000	Weak transcription	Brain Hippocampus Middle	brain

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