Variant report

Variant	rs200568008
Chromosome Location	chr16:71917059-71917060
allele	-/GCT
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	USF2	chr16:71916894-71917285	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:71916890-71918799	H1-neurons	neurons:	n/a	n/a
3	USF2	chr16:71916999-71917290	GM12878	blood:	n/a	n/a
4	EBF1	chr16:71916344-71917509	GM12878	blood:	n/a	n/a
5	CTCF	chr16:71916960-71917110	AG04450	lung:	n/a	n/a
6	WRNIP1	chr16:71916427-71917397	GM12878	blood:	n/a	n/a
7	TAF1	chr16:71916835-71918785	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr16:71916839-71918754	H1-neurons	neurons:	n/a	n/a
9	ZBTB7A	chr16:71916839-71918759	ECC-1	luminal epithelium:	n/a	chr16:71917750-71917759
10	ZEB1	chr16:71916903-71917572	GM12878	blood:	n/a	chr16:71917224-71917233
11	CTCF	chr16:71917040-71917190	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr16:71916940-71917090	HCPEpiC	choroid plexus:	n/a	n/a
13	RELA	chr16:71916349-71917527	GM18951	blood:	n/a	n/a
14	POLR2A	chr16:71916952-71918603	GM19099	blood:	n/a	n/a
15	STAT1	chr16:71917034-71917234	GM12878	blood:	n/a	n/a
16	RCOR1	chr16:71917021-71918708	K562	blood:	n/a	n/a
17	ZNF143	chr16:71917009-71918323	GM12878	blood:	n/a	chr16:71918056-71918066 chr16:71918130-71918140
18	CTCF	chr16:71916117-71918628	SK-N-SH	brain:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
19	REST	chr16:71916268-71918981	H1-neurons	neurons:	n/a	chr16:71917704-71917722 chr16:71917883-71917896 chr16:71918681-71918699 chr16:71918681-71918694 chr16:71917886-71917899 chr16:71918678-71918691 chr16:71917703-71917723
20	CTCF	chr16:71917020-71917170	BE2_C	brain:	n/a	n/a
21	CHD2	chr16:71916886-71918585	GM12878	blood:	n/a	chr16:71917752-71917762
22	CTCF	chr16:71917040-71917190	HMEC	breast:	n/a	n/a
23	EGR1	chr16:71916977-71918452	HCT-116	colon:	n/a	chr16:71917462-71917471 chr16:71917461-71917474 chr16:71917460-71917475 chr16:71917477-71917491 chr16:71918175-71918188 chr16:71918124-71918137 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917460-71917474 chr16:71918180-71918190 chr16:71918121-71918135 chr16:71917458-71917472 chr16:71917461-71917474 chr16:71917849-71917859 chr16:71917462-71917473 chr16:71917462-71917472 chr16:71917462-71917472
24	CTCF	chr16:71916940-71917090	HPAF	blood vessel:	n/a	n/a
25	MXI1	chr16:71917030-71917478	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr16:71916940-71917090	HMF	breast:	n/a	n/a
27	RUNX3	chr16:71916313-71917171	GM12878	blood:	n/a	chr16:71916684-71916699
28	CUX1	chr16:71916318-71917464	GM12878	blood:	n/a	n/a
29	MAX	chr16:71917036-71917524	GM12878	blood:	n/a	chr16:71917463-71917472
30	POLR2A	chr16:71916938-71918675	GM18505	blood:	n/a	n/a
31	SMC3	chr16:71916289-71918777	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr16:71916397-71918588	GM12878	blood:	n/a	n/a
33	FOXM1	chr16:71916246-71917074	GM12878	blood:	n/a	n/a
34	CTCF	chr16:71916960-71917110	HEK293	kidney:	n/a	n/a
35	TBL1XR1	chr16:71916317-71917778	GM12878	blood:	n/a	n/a
36	TCF7L2	chr16:71917017-71918665	HCT-116	colon:	n/a	n/a
37	CTCF	chr16:71917040-71917190	WI-38	lung:	n/a	n/a
38	SMC3	chr16:71916970-71917253	Hela-S3	cervix:	n/a	n/a
39	RFX5	chr16:71916306-71917120	Hela-S3	cervix:	n/a	n/a
40	MTA3	chr16:71916372-71917623	GM12878	blood:	n/a	n/a
41	CTCF	chr16:71916980-71917130	HCM	heart:	n/a	n/a
42	POLR2A	chr16:71916982-71918617	GM15510	blood:	n/a	n/a
43	CTCF	chr16:71916980-71917130	WI-38	lung:	n/a	n/a
44	MAZ	chr16:71916312-71918705	GM12878	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
45	SIN3A	chr16:71916997-71918798	H1-hESC	embryonic stem cell:	n/a	chr16:71918439-71918447 chr16:71917690-71917703 chr16:71918327-71918338 chr16:71917886-71917899
46	RCOR1	chr16:71917041-71917488	K562	blood:	n/a	n/a
47	ZNF143	chr16:71917028-71917314	Hela-S3	cervix:	n/a	n/a
48	GATA3	chr16:71916935-71917386	T-47D	breast:	n/a	n/a
49	CTCF	chr16:71917040-71917190	AG04449	skin:	n/a	n/a
50	RCOR1	chr16:71916931-71917450	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71879026..71881212-chr16:71914841..71917763,3	MCF-7	breast:
2	chr16:71912441..71914997-chr16:71916463..71919857,4	K562	blood:
3	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
4	chr16:71841119..71843508-chr16:71916755..71918312,2	K562	blood:
5	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
6	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
7	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
8	chr16:71917025..71919213-chr20:46129079..46131183,2	MCF-7	breast:
9	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
10	chr16:71916310..71918495-chr16:71961448..71964132,2	K562	blood:
11	chr16:71841119..71844188-chr16:71916755..71919955,4	K562	blood:
12	chr16:71916398..71918691-chr16:71923967..71926523,2	K562	blood:
13	chr16:71916483..71919796-chr16:71926616..71929598,5	K562	blood:
14	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
15	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
16	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-498D10.4.1-1	chr16:71917020-71917306	NONHSAT143515

Variant related genes	Relation type
IST1	TF binding region
ZNF821	TF binding region
ENSG00000261765	TF binding region
ENSG00000261513	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3328027	chr16:71916676-71919424	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71900200-71917200	Weak transcription	Gastric	stomach
2	chr16:71914800-71918800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr16:71916200-71917400	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr16:71916200-71919000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:71916400-71917200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:71916400-71917200	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr16:71916400-71917200	Flanking Active TSS	Fetal Lung	lung
8	chr16:71916400-71917200	Flanking Active TSS	A549	lung
9	chr16:71916400-71917400	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr16:71916400-71917400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr16:71916400-71917400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr16:71916400-71917400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:71916400-71917400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr16:71916400-71917400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr16:71916400-71917400	Flanking Active TSS	HUVEC	blood vessel
16	chr16:71916400-71917400	Flanking Active TSS	K562	blood
17	chr16:71916400-71917400	Flanking Active TSS	NHEK	skin
18	chr16:71916400-71917600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr16:71916400-71917600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
20	chr16:71916400-71917800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:71916400-71918800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:71916400-71919000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr16:71916600-71917200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr16:71916600-71917200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:71916600-71917200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr16:71916600-71917200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr16:71916600-71917200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr16:71916600-71917200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr16:71916600-71917200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr16:71916600-71917200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:71916600-71917200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:71916600-71917200	Enhancers	Fetal Heart	heart
33	chr16:71916600-71917200	Flanking Active TSS	Fetal Kidney	kidney
34	chr16:71916600-71917200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr16:71916600-71917200	Flanking Active TSS	NHLF	lung
36	chr16:71916600-71917400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:71916600-71917400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:71916600-71917400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:71916600-71917400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:71916600-71917400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr16:71916600-71917400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:71916600-71917400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr16:71916600-71917400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:71916600-71917400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr16:71916600-71917400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:71916600-71917400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:71916600-71917400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr16:71916600-71917400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:71916600-71917400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:71916600-71917400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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