Variant report

Variant	rs188644303
Chromosome Location	chr16:82204510-82204511
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	E2F6	chr16:82203445-82204598	K562	blood:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833 chr16:82203650-82203659
2	ZBTB7A	chr16:82204004-82204553	ECC-1	luminal epithelium:	n/a	n/a
3	MAZ	chr16:82203399-82204535	IMR90	lung:	n/a	chr16:82203651-82203661 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
4	MAX	chr16:82203410-82204516	SK-N-SH	brain:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
5	POLR2A	chr16:82200674-82204569	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr16:82203327-82204557	HepG2	liver:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
7	MAX	chr16:82203394-82204562	ECC-1	luminal epithelium:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
8	MAX	chr16:82203321-82204532	HCT-116	colon:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
9	MAX	chr16:82203397-82204551	MCF-7	breast:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
10	UBTF	chr16:82203367-82204517	K562	blood:	n/a	n/a
11	POLR2A	chr16:82203356-82204518	U87	brain:	n/a	n/a
12	RCOR1	chr16:82203356-82204531	K562	blood:	n/a	n/a
13	POLR2A	chr16:82202498-82204512	MCF10A-Er-Src	breast:	n/a	n/a
14	HDAC2	chr16:82203385-82204542	MCF-7	breast:	n/a	chr16:82204249-82204268 chr16:82203904-82203913
15	EBF1	chr16:82203910-82204523	GM12878	blood:	n/a	n/a
16	TCF12	chr16:82203534-82204563	ECC-1	luminal epithelium:	n/a	n/a
17	ZBTB7A	chr16:82204094-82204529	K562	blood:	n/a	n/a
18	MAX	chr16:82203434-82204540	K562	blood:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
19	UBTF	chr16:82203415-82204530	K562	blood:	n/a	n/a
20	MYC	chr16:82203403-82204555	MCF10A-Er-Src	breast:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
21	E2F6	chr16:82203715-82204548	A549	lung:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833
22	REST	chr16:82203338-82204628	H1-neurons	neurons:	n/a	chr16:82204313-82204323
23	MXI1	chr16:82203256-82204560	IMR90	lung:	n/a	chr16:82204198-82204207
24	E2F6	chr16:82203429-82204557	H1-hESC	embryonic stem cell:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833 chr16:82203650-82203659
25	MXI1	chr16:82203145-82204612	SK-N-SH	brain:	n/a	chr16:82204198-82204207
26	NRF1	chr16:82203399-82204560	SK-N-SH	brain:	n/a	chr16:82203971-82203980 chr16:82203839-82203848 chr16:82203822-82203833 chr16:82203823-82203837 chr16:82203969-82203978 chr16:82203823-82203834 chr16:82203907-82203916 chr16:82203837-82203848 chr16:82203904-82203918 chr16:82203825-82203834
27	MAX	chr16:82203357-82204544	HCT-116	colon:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
28	NFIC	chr16:82203870-82204561	ECC-1	luminal epithelium:	n/a	chr16:82204453-82204470
29	TCF12	chr16:82203322-82204515	A549	lung:	n/a	n/a
30	NFIC	chr16:82203664-82204569	ECC-1	luminal epithelium:	n/a	chr16:82204453-82204470
31	HCFC1	chr16:82203300-82204577	Hela-S3	cervix:	n/a	n/a
32	MAX	chr16:82203355-82204566	SK-N-SH	brain:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
33	MAX	chr16:82203442-82204574	ECC-1	luminal epithelium:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
34	MAX	chr16:82203358-82204554	A549	lung:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
35	E2F6	chr16:82203408-82204558	H1-hESC	embryonic stem cell:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833 chr16:82203650-82203659
36	MYC	chr16:82203367-82204521	MCF10A-Er-Src	breast:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
37	MAX	chr16:82203351-82204541	HepG2	liver:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
38	MAX	chr16:82203362-82204564	H1-hESC	embryonic stem cell:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
39	MAX	chr16:82203384-82204523	K562	blood:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
40	E2F6	chr16:82203630-82204554	A549	lung:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833 chr16:82203650-82203659
41	POLR2A	chr16:82203340-82204582	SK-N-MC	brain:	n/a	n/a
42	MAX	chr16:82203272-82204558	A549	lung:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
43	MYC	chr16:82203402-82204526	K562	blood:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82203934..82205687-chr16:82217060..82219188,2	MCF-7	breast:
2	chr16:82204064..82206323-chr16:82214672..82216826,2	K562	blood:

Variant related genes	Relation type
MPHOSPH6	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
7	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active 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	13 gene(s)	inside rSNPs	diseases
11	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv907015	chr16:82203758-82284056	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82202600-82204600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:82202600-82204600	Active TSS	HSMMtube	muscle
3	chr16:82202600-82205000	Active TSS	Fetal Brain Female	brain
4	chr16:82202800-82204600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:82202800-82204600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:82202800-82204600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr16:82202800-82204600	Active TSS	Psoas Muscle	Psoas
8	chr16:82203000-82204600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:82203000-82204600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:82203000-82204600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:82203000-82204600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:82203000-82204600	Active TSS	Brain Angular Gyrus	brain
13	chr16:82203000-82204600	Active TSS	Brain Anterior Caudate	brain
14	chr16:82203000-82204600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:82203000-82204600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr16:82203200-82204600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:82203200-82204600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr16:82203200-82204600	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr16:82203200-82204600	Active TSS	Brain Cingulate Gyrus	brain
20	chr16:82203200-82204600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr16:82203200-82204600	Active TSS	Rectal Smooth Muscle	rectum
22	chr16:82203400-82204600	Active TSS	Brain Hippocampus Middle	brain
23	chr16:82203400-82204600	Active TSS	Left Ventricle	heart
24	chr16:82203800-82204600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:82204000-82204600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr16:82204000-82204600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:82204000-82204600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr16:82204000-82204600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr16:82204000-82204600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr16:82204000-82204600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr16:82204000-82204600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr16:82204000-82204600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr16:82204000-82204600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr16:82204000-82204600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr16:82204000-82204600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr16:82204000-82204600	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr16:82204200-82204600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:82204200-82204600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr16:82204200-82204600	Bivalent/Poised TSS	A549	lung
40	chr16:82204200-82204600	Flanking Bivalent TSS/Enh	Dnd41	blood
41	chr16:82204200-82204600	Flanking Active TSS	K562	blood
42	chr16:82204200-82205000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr16:82204400-82204600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:82204400-82204600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr16:82204400-82204600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr16:82204400-82204600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr16:82204400-82204600	Enhancers	Primary B cells from cord blood	blood
48	chr16:82204400-82204600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr16:82204400-82204600	Active TSS	Primary T cells from cord blood	blood
50	chr16:82204400-82204600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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