Variant report

Variant	rs3112032
Chromosome Location	chr16:81069668-81069669
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	UBTF	chr16:81069175-81070204	K562	blood:	n/a	n/a
2	POLR2A	chr16:81069163-81070096	GM12892	blood:	n/a	n/a
3	POLR2A	chr16:81069261-81069694	K562	blood:	n/a	n/a
4	ELF1	chr16:81069215-81070167	GM12878	blood:	n/a	chr16:81069410-81069423 chr16:81069934-81069946 chr16:81069955-81069964 chr16:81069864-81069876
5	MAX	chr16:81069231-81070223	K562	blood:	n/a	n/a
6	GABPA	chr16:81069235-81069943	HepG2	liver:	n/a	chr16:81069866-81069880 chr16:81069869-81069883
7	E2F6	chr16:81069607-81070105	K562	blood:	n/a	chr16:81069982-81069992 chr16:81069870-81069879 chr16:81069866-81069876 chr16:81069867-81069877
8	POLR2A	chr16:81069253-81070011	MCF-7	breast:	n/a	n/a
9	BCLAF1	chr16:81069567-81070166	GM12878	blood:	n/a	chr16:81069865-81069878 chr16:81069919-81069932 chr16:81069914-81069927 chr16:81069981-81069994
10	POLR2A	chr16:81069140-81070252	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:81069281-81070092	GM19099	blood:	n/a	n/a
12	POLR2A	chr16:81069169-81070303	K562	blood:	n/a	n/a
13	POLR2A	chr16:81069268-81069776	A549	lung:	n/a	n/a
14	POLR2A	chr16:81069260-81069984	GM12892	blood:	n/a	n/a
15	MAZ	chr16:81069142-81070140	K562	blood:	n/a	n/a
16	POLR2A	chr16:81069630-81069822	H1-hESC	embryonic stem cell:	n/a	n/a
17	HEY1	chr16:81069193-81070122	HepG2	liver:	n/a	chr16:81069904-81069919 chr16:81069986-81070001 chr16:81069867-81069882 chr16:81069865-81069880
18	MAX	chr16:81069664-81069975	GM12878	blood:	n/a	n/a
19	GABPA	chr16:81069009-81069792	MCF-7	breast:	n/a	n/a
20	CTCF	chr16:81069660-81069810	GM12864	blood:	n/a	n/a
21	POLR2A	chr16:81069198-81070342	Raji	blood:	n/a	n/a
22	POLR2A	chr16:81069198-81070070	ProgFib	skin:	n/a	n/a
23	CTCF	chr16:81068247-81070668	SK-N-SH	brain:	n/a	chr16:81069997-81070010 chr16:81069952-81069965 chr16:81069291-81069307 chr16:81069272-81069280
24	SIN3AK20	chr16:81069207-81070194	K562	blood:	n/a	n/a
25	SMARCB1	chr16:81069183-81070229	Hela-S3	cervix:	n/a	n/a
26	SIN3A	chr16:81069645-81069823	GM12878	blood:	n/a	n/a
27	HMGN3	chr16:81069196-81070206	K562	blood:	n/a	n/a
28	POLR2A	chr16:81069111-81069963	HUVEC	blood vessel:	n/a	n/a
29	HEY1	chr16:81069337-81069926	K562	blood:	n/a	chr16:81069904-81069919 chr16:81069867-81069882 chr16:81069865-81069880
30	POLR2A	chr16:81069196-81069719	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr16:81068857-81071180	H1-hESC	embryonic stem cell:	n/a	n/a
32	HCFC1	chr16:81068860-81070884	Hela-S3	cervix:	n/a	n/a
33	EGR1	chr16:81069191-81069772	K562	blood:	n/a	n/a
34	POLR2A	chr16:81069216-81070094	K562	blood:	n/a	n/a
35	POLR2A	chr16:81069272-81070098	GM18505	blood:	n/a	n/a
36	POLR2A	chr16:81069096-81070711	MCF10A-Er-Src	breast:	n/a	n/a
37	TAF1	chr16:81069268-81070105	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAZ	chr16:81068773-81070314	IMR90	lung:	n/a	n/a
39	POLR2A	chr16:81069248-81070708	Hela-S3	cervix:	n/a	n/a
40	RCOR1	chr16:81069147-81069710	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr16:81069271-81069703	A549	lung:	n/a	n/a
42	ZEB1	chr16:81069615-81070153	GM12878	blood:	n/a	n/a
43	E2F6	chr16:81069133-81070120	K562	blood:	n/a	chr16:81069982-81069992 chr16:81069870-81069879 chr16:81069866-81069876 chr16:81069867-81069877 chr16:81069319-81069330
44	POLR2A	chr16:81069283-81070002	GM18526	blood:	n/a	n/a
45	POLR2A	chr16:81069519-81070117	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr16:81069108-81069793	MCF-7	breast:	n/a	n/a
47	YY1	chr16:81069234-81069830	SK-N-SH_RA	brain:	n/a	n/a
48	POLR2A	chr16:81069180-81070119	MCF-7	breast:	n/a	n/a
49	PML	chr16:81069064-81069880	GM12878	blood:	n/a	n/a
50	POLR2A	chr16:81069153-81070074	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81068890..81071040-chr16:81770218..81773249,4	MCF-7	breast:
2	chr16:81068964..81069731-chr16:81231614..81232947,4	MCF-7	breast:
3	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
4	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:
5	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
6	chr16:81061882..81066764-chr16:81067446..81071538,9	MCF-7	breast:
7	chr16:81068894..81069816-chr16:81231960..81232923,14	MCF-7	breast:
8	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
9	chr16:81039925..81040655-chr16:81068862..81069785,3	MCF-7	breast:
10	chr16:81069395..81071569-chr16:81120451..81122846,2	K562	blood:
11	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
12	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:
13	chr16:81056423..81058180-chr16:81069392..81072113,2	MCF-7	breast:
14	chr16:81052685..81055352-chr16:81069386..81070952,2	MCF-7	breast:
15	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
16	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
17	chr16:81051240..81053871-chr16:81067800..81070435,3	K562	blood:
18	chr16:81069280..81069978-chr21:48054904..48055633,2	Hela-S3	cervix:
19	chr16:81069108..81070906-chr16:81231938..81234335,3	MCF-7	breast:
20	chr16:81068976..81069841-chr16:81110418..81110934,2	MCF-7	breast:
21	chr16:81056962..81059865-chr16:81068197..81070898,3	K562	blood:
22	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
23	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
24	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
25	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
26	chr16:81055761..81058462-chr16:81067542..81069697,2	K562	blood:
27	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
28	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:
29	chr16:81069322..81070029-chr5:112256640..112257405,2	Hela-S3	cervix:
30	chr16:81069337..81069924-chr17:39845078..39845594,2	Hela-S3	cervix:

Variant related genes	Relation type
ATMIN	TF binding region
ENSG00000260213	TF binding region
ENSG00000173812	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000153815	Chromatin interaction
ENSG00000260643	Chromatin interaction
ENSG00000197943	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000261218	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000261061	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	41 gene(s)	inside rSNPs	diseases
3	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers 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	56 gene(s)	inside rSNPs	diseases
7	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv995083	chr16:81050917-81076406	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers 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	32 gene(s)	inside rSNPs	diseases
11	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv1802804	chr16:81061827-81070110	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv1838483	chr16:81061827-81070110	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv1841728	chr16:81061827-81070110	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv3374530	chr16:81068676-81071224	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	esv13684	chr16:81069171-81070144	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv573339	chr16:81069196-81070059	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv573340	chr16:81069196-81070110	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv573341	chr16:81069247-81069895	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv573342	chr16:81069247-81070059	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	esv1820959	chr16:81069247-81070697	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv573343	chr16:81069298-81070059	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv573344	chr16:81069317-81070110	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	nsv573345	chr16:81069422-81070110	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81068800-81070400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr16:81068800-81070400	Active TSS	Brain Hippocampus Middle	brain
3	chr16:81068800-81071200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:81069000-81070200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:81069000-81070200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:81069000-81070200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:81069000-81070200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:81069000-81070200	Active TSS	Fetal Lung	lung
9	chr16:81069000-81070200	Active TSS	Rectal Smooth Muscle	rectum
10	chr16:81069000-81070400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:81069000-81070400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr16:81069000-81070400	Active TSS	Brain Germinal Matrix	brain
13	chr16:81069000-81070400	Active TSS	Fetal Kidney	kidney
14	chr16:81069000-81070600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:81069000-81070600	Active TSS	Fetal Muscle Trunk	muscle
16	chr16:81069000-81070800	Active TSS	Psoas Muscle	Psoas
17	chr16:81069200-81070000	Active TSS	Primary B cells from cord blood	blood
18	chr16:81069200-81070000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:81069200-81070000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr16:81069200-81070000	Active TSS	Adipose Nuclei	Adipose
21	chr16:81069200-81070000	Weak transcription	Fetal Heart	heart
22	chr16:81069200-81070000	Active TSS	HepG2	liver
23	chr16:81069200-81070200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:81069200-81070200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:81069200-81070200	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr16:81069200-81070200	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr16:81069200-81070200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr16:81069200-81070200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:81069200-81070200	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr16:81069200-81070200	Active TSS	Brain Substantia Nigra	brain
31	chr16:81069200-81070200	Active TSS	Duodenum Mucosa	Duodenum
32	chr16:81069200-81070200	Active TSS	Fetal Brain Female	brain
33	chr16:81069200-81070200	Active TSS	Fetal Intestine Small	intestine
34	chr16:81069200-81070200	Active TSS	Fetal Stomach	stomach
35	chr16:81069200-81070200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr16:81069200-81070200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr16:81069200-81070200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr16:81069200-81070200	Active TSS	Thymus	Thymus
39	chr16:81069200-81070200	Active TSS	GM12878-XiMat	blood
40	chr16:81069200-81070200	Active TSS	Hela-S3	cervix
41	chr16:81069200-81070200	Active TSS	K562	blood
42	chr16:81069200-81070200	Active TSS	Osteobl	bone
43	chr16:81069200-81070400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr16:81069200-81070400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr16:81069200-81070400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr16:81069200-81070400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr16:81069200-81070400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:81069200-81070400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:81069200-81070400	Active TSS	Brain Angular Gyrus	brain
50	chr16:81069200-81070400	Active TSS	Brain Anterior Caudate	brain

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