Variant report

Variant	rs533904799
Chromosome Location	chr16:70725630-70725631
allele	C/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	chr16:70725601-70725960	Gliobla	brain:	n/a	n/a
2	MAX	chr16:70725630-70726149	SK-N-SH	brain:	n/a	chr16:70725700-70725710 chr16:70725943-70725952 chr16:70725939-70725948 chr16:70725883-70725892
3	PBX3	chr16:70725584-70726253	SK-N-SH	brain:	n/a	n/a
4	MAX	chr16:70725589-70726015	SK-N-SH	brain:	n/a	chr16:70725700-70725710 chr16:70725943-70725952 chr16:70725939-70725948 chr16:70725883-70725892
5	PBX3	chr16:70725622-70726273	SK-N-SH	brain:	n/a	n/a
6	CHD1	chr16:70725533-70726481	IMR90	lung:	n/a	n/a
7	MEF2A	chr16:70725561-70726386	SK-N-SH	brain:	n/a	chr16:70726013-70726034
8	POLR2A	chr16:70725598-70726192	H1-neurons	neurons:	n/a	n/a
9	MAZ	chr16:70725136-70726585	IMR90	lung:	n/a	chr16:70725700-70725710 chr16:70725943-70725952 chr16:70725939-70725948 chr16:70725883-70725892
10	POLR2A	chr16:70725628-70726134	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr16:70725561-70726192	SK-N-SH	brain:	n/a	n/a
12	REST	chr16:70725265-70726504	H1-neurons	neurons:	n/a	chr16:70725495-70725513 chr16:70725438-70725451 chr16:70726385-70726405 chr16:70725495-70725508 chr16:70725893-70725906 chr16:70725270-70725283
13	NFIC	chr16:70725604-70726365	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr16:70725472-70726320	U87	brain:	n/a	n/a
15	POLR2A	chr16:70725247-70726312	IMR90	lung:	n/a	n/a
16	POLR2A	chr16:70725478-70726314	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70724785..70727476-chr16:70778008..70779690,2	MCF-7	breast:

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
17	nsv906886	chr16:70712549-70727324	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	nsv906887	chr16:70714434-70727324	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
19	nsv572947	chr16:70714434-70731870	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
20	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
21	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv572948	chr16:70724432-70731870	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719400-70727800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:70719400-70729200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:70719400-70729400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
6	chr16:70720200-70728200	Enhancers	Fetal Heart	heart
7	chr16:70720400-70727000	Enhancers	Colonic Mucosa	Colon
8	chr16:70720400-70729200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:70720400-70729600	Enhancers	Right Atrium	heart
10	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
11	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
12	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
13	chr16:70720600-70726200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr16:70720600-70726800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr16:70720600-70728200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:70720600-70728600	Enhancers	Placenta	Placenta
17	chr16:70720600-70728800	Weak transcription	Primary T cells from cord blood	blood
18	chr16:70720600-70729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr16:70720600-70729200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:70720600-70729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:70720600-70729600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:70720600-70729800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr16:70720600-70730000	Enhancers	Psoas Muscle	Psoas
24	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:70720800-70726600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr16:70720800-70727600	Enhancers	Brain Substantia Nigra	brain
27	chr16:70720800-70727600	Weak transcription	Dnd41	blood
28	chr16:70720800-70729800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr16:70720800-70730200	Enhancers	Adipose Nuclei	Adipose
30	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
32	chr16:70721000-70727200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr16:70721000-70728800	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
35	chr16:70721200-70725800	Enhancers	Fetal Muscle Leg	muscle
36	chr16:70721200-70726400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr16:70721200-70727400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:70721200-70728000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr16:70721200-70728200	Enhancers	Fetal Lung	lung
40	chr16:70721200-70730000	Enhancers	Brain Anterior Caudate	brain
41	chr16:70721200-70730200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr16:70721200-70730200	Enhancers	NHDF-Ad	bronchial
43	chr16:70721400-70726200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:70721400-70728000	Weak transcription	K562	blood
45	chr16:70721600-70727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:70721600-70728000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr16:70721800-70725800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:70721800-70727400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr16:70722000-70726800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr16:70722000-70727200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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