Variant report

Variant	rs11638794
Chromosome Location	chr15:33154287-33154288
allele	A/C
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	RAD21	chr15:33154084-33154327	HepG2	liver:	n/a	chr15:33154259-33154272
2	RAD21	chr15:33153984-33154447	H1-hESC	embryonic stem cell:	n/a	chr15:33154259-33154272
3	MXI1	chr15:33153896-33154564	IMR90	lung:	n/a	chr15:33154178-33154187 chr15:33154178-33154187
4	CTCF	chr15:33154260-33154410	AG10803	skin:	n/a	n/a
5	USF1	chr15:33154039-33154289	H1-hESC	embryonic stem cell:	n/a	n/a
6	EBF1	chr15:33153887-33154300	GM12878	blood:	n/a	n/a
7	CTCF	chr15:33154203-33154308	GM19239	blood:	n/a	n/a
8	CTCF	chr15:33154175-33154306	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr15:33153970-33154452	H1-hESC	embryonic stem cell:	n/a	chr15:33154177-33154186 chr15:33154177-33154186 chr15:33154177-33154187 chr15:33154177-33154186 chr15:33154176-33154187 chr15:33154251-33154260 chr15:33154176-33154187
10	POLR2A	chr15:33154102-33154359	Gliobla	brain:	n/a	n/a
11	POLR2A	chr15:33153876-33154410	IMR90	lung:	n/a	n/a
12	MAX	chr15:33154011-33154372	K562	blood:	n/a	chr15:33154177-33154186 chr15:33154177-33154186 chr15:33154177-33154187 chr15:33154177-33154186 chr15:33154176-33154187 chr15:33154251-33154260 chr15:33154176-33154187
13	RAD21	chr15:33153972-33154317	IMR90	lung:	n/a	chr15:33154259-33154272
14	MAX	chr15:33153942-33154367	NB4	blood:	n/a	chr15:33154177-33154186 chr15:33154177-33154186 chr15:33154177-33154187 chr15:33154177-33154186 chr15:33154176-33154187 chr15:33154251-33154260 chr15:33154176-33154187
15	CTCF	chr15:33154193-33154288	GM19238	blood:	n/a	n/a
16	POLR2A	chr15:33153810-33154447	ProgFib	skin:	n/a	n/a
17	E2F6	chr15:33153895-33154397	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr15:33153933-33154386	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr15:33154242-33154306	Fibrobl	skin:	n/a	n/a
20	MYC	chr15:33154012-33154353	NB4	blood:	n/a	chr15:33154177-33154186 chr15:33154177-33154186 chr15:33154177-33154187 chr15:33154177-33154186 chr15:33154176-33154187 chr15:33154251-33154260 chr15:33154176-33154187
21	RAD21	chr15:33154075-33154394	H1-hESC	embryonic stem cell:	n/a	chr15:33154259-33154272
22	MAX	chr15:33154104-33154291	K562	blood:	n/a	chr15:33154177-33154186 chr15:33154177-33154186 chr15:33154177-33154187 chr15:33154177-33154186 chr15:33154176-33154187 chr15:33154251-33154260 chr15:33154176-33154187
23	RAD21	chr15:33154070-33154400	H1-hESC	embryonic stem cell:	n/a	chr15:33154259-33154272
24	MAX	chr15:33153995-33154450	H1-hESC	embryonic stem cell:	n/a	chr15:33154177-33154186 chr15:33154177-33154186 chr15:33154177-33154187 chr15:33154177-33154186 chr15:33154176-33154187 chr15:33154251-33154260 chr15:33154176-33154187
25	MAX	chr15:33153959-33154346	H1-hESC	embryonic stem cell:	n/a	chr15:33154177-33154186 chr15:33154177-33154186 chr15:33154177-33154187 chr15:33154177-33154186 chr15:33154176-33154187 chr15:33154251-33154260 chr15:33154176-33154187

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:33154262-33154312	AG09309	skin:	n/a
2	chr15:33154262-33154312	H1-hESC	embryonic stem cell:	embryo
3	chr15:33154262-33154312	HIPEpiC	eye:	n/a
4	chr15:33154262-33154312	AoSMC	blood vessel:	n/a
5	chr15:33154262-33154312	HEK293	kidney:	embryo
6	chr15:33154262-33154312	GM19239	blood:	n/a
7	chr15:33154262-33154312	IMR90	lung:	fetal
8	chr15:33154262-33154312	BE2_C	brain:	n/a
9	chr15:33154262-33154312	SAEC	small airway:	n/a
10	chr15:33154262-33154312	AG04449	skin:	fetal
11	chr15:33154262-33154312	HCM	heart:	n/a
12	chr15:33154262-33154312	NHDF-neo	bronchial:	n/a
13	chr15:33154262-33154312	ProgFib	skin:	n/a
14	chr15:33154262-33154312	U87	brain:	n/a
15	chr15:33154262-33154312	HRPEpiC	eye:	n/a
16	chr15:33154262-33154312	NHBE	bronchial:	n/a
17	chr15:33154262-33154312	HUVEC	blood vessel:	n/a
18	chr15:33154262-33154312	SKMC	muscle:	n/a
19	chr15:33154262-33154312	AG04450	lung:	fetal
20	chr15:33154262-33154312	AG09319	gingival:	n/a
21	chr15:33154262-33154312	LNCaP	prostate:	n/a
22	chr15:33154262-33154312	A549	lung:	n/a
23	chr15:33154262-33154312	ECC-1	luminal epithelium:	n/a
24	chr15:33154262-33154312	HAEpiC	amniotic membrane:	n/a
25	chr15:33154262-33154312	CMK	blood:	n/a
26	chr15:33154262-33154312	K562	blood:	n/a
27	chr15:33154262-33154312	Hela-S3	cervix:	n/a
28	chr15:33154262-33154312	PrEC	prostate:	n/a
29	chr15:33154262-33154312	SK-N-MC	brain:	n/a
30	chr15:33154262-33154312	Caco-2	colon:	n/a
31	chr15:33154262-33154312	BJ	skin:	n/a
32	chr15:33154262-33154312	ovcar-3	ovarian:	n/a
33	chr15:33154262-33154312	SK-N-SH_RA	brain:	n/a
34	chr15:33154262-33154312	NH-A	brain:	n/a
35	chr15:33154262-33154312	HRCEpiC	kidney:	n/a
36	chr15:33154262-33154312	Jurkat	blood:	n/a
37	chr15:33154262-33154312	Hepatocyte	liver:	n/a
38	chr15:33154262-33154312	HCPEpiC	choroid plexus:	n/a
39	chr15:33154262-33154312	GM06990	blood:	n/a
40	chr15:33154262-33154312	HMEC	breast:	n/a
41	chr15:33154262-33154312	HRE	kidney:	n/a
42	chr15:33154262-33154312	NB4	blood:	n/a
43	chr15:33154262-33154312	PFSK-1	brain:	n/a
44	chr15:33154262-33154312	RPTEC	kidney:	n/a
45	chr15:33154262-33154312	GM12891	blood:	n/a
46	chr15:33154262-33154312	MCF10A-Er-Src	breast:	n/a
47	chr15:33154262-33154312	HCF	heart:	n/a
48	chr15:33154262-33154312	AG10803	skin:	n/a
49	chr15:33154262-33154312	T-47D	breast:	n/a
50	chr15:33154262-33154312	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
FMN1	TF binding region
FMN1	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17228864	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs17816441	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs8034124	0.82[ASW][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv903980	chr15:33149087-33264201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33096400-33159000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:33118600-33159000	Weak transcription	Gastric	stomach
3	chr15:33131800-33164800	Weak transcription	Pancreas	Pancrea
4	chr15:33138800-33190600	Weak transcription	Thymus	Thymus
5	chr15:33139600-33190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:33142600-33168200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:33147000-33191400	Weak transcription	Lung	lung
8	chr15:33148000-33158600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:33149000-33158800	Weak transcription	Hela-S3	cervix
10	chr15:33149000-33202000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:33149200-33158800	Weak transcription	Stomach Mucosa	stomach
12	chr15:33149400-33159000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:33149600-33169600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:33150600-33154800	Weak transcription	A549	lung
15	chr15:33153400-33154400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr15:33153400-33154400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:33153400-33154400	Enhancers	Colonic Mucosa	Colon
18	chr15:33153400-33154600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr15:33153400-33154600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:33153400-33154600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:33153400-33154600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:33153400-33154600	Enhancers	Fetal Stomach	stomach
23	chr15:33153400-33154600	Flanking Active TSS	Osteobl	bone
24	chr15:33153400-33155000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr15:33153400-33155200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:33153400-33155200	Enhancers	Spleen	Spleen
27	chr15:33153600-33154400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr15:33153600-33154400	Enhancers	Duodenum Mucosa	Duodenum
29	chr15:33153600-33154400	Enhancers	Fetal Thymus	thymus
30	chr15:33153600-33154400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr15:33153600-33154600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:33153600-33154600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr15:33153600-33154600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:33153600-33154600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:33153600-33154800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:33153600-33155000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr15:33153600-33155000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:33153800-33154400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:33153800-33154400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:33153800-33154400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:33153800-33154400	Active TSS	Brain Anterior Caudate	brain
42	chr15:33153800-33154400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:33153800-33154400	Active TSS	Brain Substantia Nigra	brain
44	chr15:33153800-33154400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr15:33153800-33154600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr15:33153800-33154600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:33153800-33154600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:33153800-33154600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr15:33153800-33154600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:33153800-33154600	Enhancers	Primary B cells from peripheral blood	blood

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