Variant report

Variant	rs73381337
Chromosome Location	chr15:31196550-31196551
allele	A/G
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	chr15:31195598-31196589	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:31195556-31196620	GM12891	blood:	n/a	n/a
3	POLR2A	chr15:31195597-31196781	MCF10A-Er-Src	breast:	n/a	n/a
4	CHD1	chr15:31195551-31196718	GM12878	blood:	n/a	n/a
5	TCF7L2	chr15:31195749-31196711	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr15:31196484-31196780	K562	blood:	n/a	n/a
7	MYC	chr15:31195517-31196701	H1-hESC	embryonic stem cell:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
8	MXI1	chr15:31195503-31196652	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr15:31195556-31196712	GM12878	blood:	n/a	n/a
10	MXI1	chr15:31195238-31197032	SK-N-SH	brain:	n/a	n/a
11	HCFC1	chr15:31195436-31196885	Hela-S3	cervix:	n/a	n/a
12	MAX	chr15:31195512-31196577	H1-hESC	embryonic stem cell:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
13	REST	chr15:31195366-31196785	H1-neurons	neurons:	n/a	chr15:31195886-31195899 chr15:31196251-31196265 chr15:31196317-31196330 chr15:31196081-31196094
14	POLR2A	chr15:31195794-31199258	K562	blood:	n/a	n/a
15	MAX	chr15:31195453-31196706	ECC-1	luminal epithelium:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
16	SIN3A	chr15:31195523-31196720	H1-hESC	embryonic stem cell:	n/a	chr15:31196250-31196264 chr15:31196317-31196330 chr15:31196257-31196270
17	TCF7L2	chr15:31195851-31196609	PANC-1	pancreas:	n/a	n/a
18	SIN3A	chr15:31195692-31196618	GM12878	blood:	n/a	chr15:31196250-31196264 chr15:31196317-31196330 chr15:31196257-31196270
19	TCF7L2	chr15:31195985-31196577	MCF-7	breast:	n/a	n/a
20	POLR2A	chr15:31195640-31196690	K562	blood:	n/a	n/a
21	MAX	chr15:31195589-31196576	H1-hESC	embryonic stem cell:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
22	POLR2A	chr15:31195598-31196558	HUVEC	blood vessel:	n/a	n/a
23	HA-E2F1	chr15:31195597-31196614	MCF-7	breast:	n/a	chr15:31196302-31196312 chr15:31196305-31196314 chr15:31196071-31196080
24	SIN3AK20	chr15:31195496-31196576	MCF-7	breast:	n/a	n/a
25	POLR2A	chr15:31195569-31196820	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr15:31195469-31196759	A549	lung:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
27	ZNF263	chr15:31195617-31196561	HEK293-T-REx	kidney:	n/a	chr15:31196130-31196151 chr15:31196141-31196150 chr15:31195909-31195918
28	TCF12	chr15:31195439-31196587	A549	lung:	n/a	n/a
29	POLR2A	chr15:31195572-31196742	HepG2	liver:	n/a	n/a
30	MXI1	chr15:31195403-31196671	IMR90	lung:	n/a	n/a
31	POLR2A	chr15:31195568-31196624	Hela-S3	cervix:	n/a	n/a
32	RUNX3	chr15:31195474-31196651	GM12878	blood:	n/a	n/a
33	WRNIP1	chr15:31195600-31196630	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:31195606-31196641	K562	blood:	n/a	n/a
35	MAX	chr15:31195517-31196641	HepG2	liver:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
36	E2F6	chr15:31195513-31196625	H1-hESC	embryonic stem cell:	n/a	chr15:31196302-31196312 chr15:31196305-31196314 chr15:31196071-31196080
37	MAX	chr15:31195545-31196597	HepG2	liver:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
38	MAX	chr15:31195579-31196566	Hela-S3	cervix:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
39	MAX	chr15:31195469-31196823	A549	lung:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
40	MAX	chr15:31195611-31196631	ECC-1	luminal epithelium:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
41	POLR2A	chr15:31195618-31196980	K562	blood:	n/a	n/a
42	POLR2A	chr15:31195638-31196778	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:31195772..31198184-chr15:31282316..31283835,2	K562	blood:
2	chr15:31194465..31197297-chr15:31282167..31285499,3	K562	blood:
3	chr15:31194962..31197804-chr15:31219595..31222456,2	K562	blood:
4	chr15:31194360..31196709-chr15:31282391..31284386,2	MCF-7	breast:

Variant related genes	Relation type
FAN1	TF binding region
ENSG00000198690	Chromatin interaction
ENSG00000166912	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11855516	1.00[AMR][1000 genomes]
rs11856775	1.00[AMR][1000 genomes]
rs11858651	1.00[AMR][1000 genomes]
rs11858680	1.00[AMR][1000 genomes]
rs2625800	1.00[AMR][1000 genomes]
rs28583796	1.00[AMR][1000 genomes]
rs28607120	1.00[AMR][1000 genomes]
rs28623378	1.00[AMR][1000 genomes]
rs28770770	1.00[AMR][1000 genomes]
rs28809782	1.00[AMR][1000 genomes]
rs55749458	1.00[AMR][1000 genomes]
rs55873234	1.00[AMR][1000 genomes]
rs55896057	1.00[AMR][1000 genomes]
rs56310450	1.00[AMR][1000 genomes]
rs56364319	0.98[AFR][1000 genomes]
rs56408018	1.00[AMR][1000 genomes]
rs57499412	1.00[AMR][1000 genomes]
rs57551901	1.00[AMR][1000 genomes]
rs57661317	1.00[AMR][1000 genomes]
rs57807297	0.98[AFR][1000 genomes]
rs58522856	1.00[AMR][1000 genomes]
rs59803232	1.00[AMR][1000 genomes]
rs60002525	1.00[AMR][1000 genomes]
rs60084176	1.00[AMR][1000 genomes]
rs60718659	1.00[AMR][1000 genomes]
rs60719098	0.94[AFR][1000 genomes]
rs60765564	1.00[AMR][1000 genomes]
rs61009284	1.00[AMR][1000 genomes]
rs61080715	1.00[AMR][1000 genomes]
rs61439612	1.00[AMR][1000 genomes]
rs61528441	1.00[AMR][1000 genomes]
rs61599827	1.00[AMR][1000 genomes]
rs61701824	1.00[AMR][1000 genomes]
rs7163814	1.00[AMR][1000 genomes]
rs7165699	1.00[AMR][1000 genomes]
rs7169444	1.00[AMR][1000 genomes]
rs7169542	1.00[AMR][1000 genomes]
rs7170006	1.00[AMR][1000 genomes]
rs7171389	0.98[AFR][1000 genomes]
rs7175397	1.00[AMR][1000 genomes]
rs7176959	1.00[AMR][1000 genomes]
rs7182086	1.00[AMR][1000 genomes]
rs7182655	1.00[AMR][1000 genomes]
rs73366503	1.00[AMR][1000 genomes]
rs73366549	1.00[AMR][1000 genomes]
rs73366561	1.00[AMR][1000 genomes]
rs73366569	1.00[AMR][1000 genomes]
rs73366598	1.00[AMR][1000 genomes]
rs73368419	1.00[AMR][1000 genomes]
rs73368457	1.00[AMR][1000 genomes]
rs73377254	1.00[AMR][1000 genomes]
rs73377277	1.00[AMR][1000 genomes]
rs73377279	1.00[AMR][1000 genomes]
rs73377286	1.00[AMR][1000 genomes]
rs73377300	1.00[AMR][1000 genomes]
rs73379134	1.00[AMR][1000 genomes]
rs73379138	1.00[AMR][1000 genomes]
rs73379150	1.00[AMR][1000 genomes]
rs73379190	1.00[AMR][1000 genomes]
rs73381335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381339	1.00[AMR][1000 genomes]
rs73381340	0.98[AFR][1000 genomes]
rs73381351	1.00[AMR][1000 genomes]
rs73381353	0.98[AFR][1000 genomes]
rs73381362	0.94[AFR][1000 genomes]
rs73381363	1.00[AMR][1000 genomes]
rs74008929	1.00[AMR][1000 genomes]
rs74008931	1.00[AMR][1000 genomes]
rs74009242	1.00[AMR][1000 genomes]
rs74012716	1.00[AMR][1000 genomes]
rs8023403	0.98[AFR][1000 genomes]
rs8024086	0.98[AFR][1000 genomes]
rs8028459	1.00[AMR][1000 genomes]
rs8029314	1.00[AMR][1000 genomes]
rs8033175	1.00[AMR][1000 genomes]
rs8041411	1.00[AMR][1000 genomes]
rs8042198	1.00[AMR][1000 genomes]
rs8043076	1.00[AMR][1000 genomes]
rs9783686	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427955	chr15:30467980-31273174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv533434	chr15:30938215-31244225	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1039037	chr15:31140415-31277268	Strong transcription ZNF genes & repeats Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv542309	chr15:31140415-31277268	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv521842	chr15:31140700-31272670	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31195000-31196600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:31195000-31196600	Active TSS	A549	lung
3	chr15:31195000-31196800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:31195000-31196800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr15:31195000-31196800	Active TSS	Rectal Smooth Muscle	rectum
6	chr15:31195200-31196800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:31195400-31196600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:31195400-31196600	Active TSS	Primary T cells from cord blood	blood
9	chr15:31195400-31196600	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr15:31195400-31196600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:31195400-31196600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:31195400-31196600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr15:31195400-31196600	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr15:31195400-31196800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr15:31195400-31196800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:31195400-31196800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr15:31195400-31196800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:31195400-31196800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:31195400-31196800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr15:31195400-31196800	Active TSS	Brain Cingulate Gyrus	brain
21	chr15:31195400-31196800	Active TSS	Brain Hippocampus Middle	brain
22	chr15:31195400-31196800	Active TSS	Brain Substantia Nigra	brain
23	chr15:31195400-31196800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr15:31195400-31196800	Active TSS	Fetal Heart	heart
25	chr15:31195400-31196800	Active TSS	Fetal Intestine Large	intestine
26	chr15:31195400-31196800	Active TSS	Fetal Intestine Small	intestine
27	chr15:31195400-31196800	Active TSS	Fetal Kidney	kidney
28	chr15:31195400-31196800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr15:31195400-31196800	Active TSS	Fetal Lung	lung
30	chr15:31195400-31196800	Active TSS	Fetal Muscle Trunk	muscle
31	chr15:31195400-31196800	Active TSS	Fetal Muscle Leg	muscle
32	chr15:31195400-31196800	Active TSS	Placenta	Placenta
33	chr15:31195400-31196800	Active TSS	Fetal Stomach	stomach
34	chr15:31195400-31196800	Active TSS	Fetal Thymus	thymus
35	chr15:31195400-31196800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr15:31195400-31196800	Active TSS	Right Ventricle	heart
37	chr15:31195400-31196800	Active TSS	Hela-S3	cervix
38	chr15:31195400-31196800	Active TSS	HepG2	liver
39	chr15:31195400-31196800	Active TSS	HSMMtube	muscle
40	chr15:31195400-31196800	Active TSS	NHDF-Ad	bronchial
41	chr15:31195400-31196800	Active TSS	NHEK	skin
42	chr15:31195400-31197000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr15:31195400-31197000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr15:31195400-31197000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:31195400-31197000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:31195400-31197000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:31195400-31197000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr15:31195400-31197000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr15:31195400-31197000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:31195400-31197000	Active TSS	Colonic Mucosa	Colon

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