Variant report

Variant	rs570646816
Chromosome Location	chr1:161695571-161695572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161695570-161697661	K562	blood:	n/a	n/a
2	POLR2A	chr1:161695514-161697254	K562	blood:	n/a	n/a
3	CTCF	chr1:161695480-161695630	NHDF-neo	bronchial:	n/a	n/a
4	POLR2A	chr1:161695542-161697823	U87	brain:	n/a	n/a
5	SIN3A	chr1:161695514-161697471	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:161695480-161697765	K562	blood:	n/a	n/a
7	POLR2A	chr1:161695530-161697371	GM12878	blood:	n/a	n/a
8	HA-E2F1	chr1:161695552-161696803	MCF-7	breast:	n/a	n/a
9	BCLAF1	chr1:161695548-161696333	GM12878	blood:	n/a	n/a
10	WRNIP1	chr1:161695561-161695619	GM12878	blood:	n/a	n/a
11	PAX5	chr1:161695425-161695966	GM12878	blood:	n/a	n/a
12	CTCF	chr1:161695560-161695710	GM12864	blood:	n/a	n/a
13	CHD2	chr1:161695560-161697732	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:161695492-161697333	MCF-7	breast:	n/a	n/a
15	EBF1	chr1:161695488-161695926	GM12878	blood:	n/a	n/a
16	RUNX3	chr1:161695432-161697868	GM12878	blood:	n/a	n/a
17	E2F6	chr1:161695494-161697483	A549	lung:	n/a	n/a
18	POLR2A	chr1:161695491-161697786	GM12891	blood:	n/a	n/a
19	NR2F2	chr1:161695471-161697544	K562	blood:	n/a	n/a
20	ELF1	chr1:161695532-161697464	GM12878	blood:	n/a	n/a
21	MTA3	chr1:161695406-161696035	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:161695382-161697677	GM12892	blood:	n/a	n/a
23	STAT5A	chr1:161695370-161697801	GM12878	blood:	n/a	chr1:161695499-161695511
24	RUNX3	chr1:161695505-161695916	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:161695506-161697576	GM18505	blood:	n/a	n/a
26	MAX	chr1:161695552-161697316	HepG2	liver:	n/a	n/a
27	NFYB	chr1:161695538-161695755	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:161695530-161697329	A549	lung:	n/a	n/a
29	E2F6	chr1:161695434-161696254	H1-hESC	embryonic stem cell:	n/a	chr1:161695493-161695505
30	POLR2A	chr1:161695354-161697657	GM12892	blood:	n/a	n/a
31	TCF12	chr1:161695527-161697515	A549	lung:	n/a	n/a
32	MTA3	chr1:161695378-161697974	GM12878	blood:	n/a	n/a
33	MAZ	chr1:161695534-161698014	IMR90	lung:	n/a	n/a
34	HEY1	chr1:161695548-161697406	K562	blood:	n/a	n/a
35	HEY1	chr1:161695357-161697732	K562	blood:	n/a	n/a
36	CTCF	chr1:161695460-161695610	HEEpiC	esophagus:	n/a	n/a
37	POLR2A	chr1:161695412-161696861	GM12891	blood:	n/a	n/a
38	STAT5A	chr1:161695424-161695799	GM12878	blood:	n/a	chr1:161695499-161695511
39	PML	chr1:161695386-161697950	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:161695551-161697696	PBDE	blood:	n/a	n/a
41	PAX5	chr1:161695410-161695734	GM12878	blood:	n/a	n/a
42	REST	chr1:161695540-161697626	H1-neurons	neurons:	n/a	n/a
43	MAX	chr1:161695520-161696777	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:161695496-161696905	GM12892	blood:	n/a	n/a
45	POLR2A	chr1:161695569-161695883	A549	lung:	n/a	n/a
46	SIN3AK20	chr1:161695493-161696252	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr1:161695432-161697950	K562	blood:	n/a	n/a
48	POLR2A	chr1:161695454-161697803	K562	blood:	n/a	n/a
49	POLR2A	chr1:161695511-161697632	GM12892	blood:	n/a	n/a
50	MAX	chr1:161695533-161697228	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161474965..161476524-chr1:161694397..161697249,2	K562	blood:
2	chr1:161694367..161698874-chr1:161718174..161721030,6	MCF-7	breast:
3	chr1:161474965..161477021-chr1:161694558..161697249,2	K562	blood:

No data

Variant related genes	Relation type
FCRLB	TF binding region
ENSG00000143226	Chromatin interaction
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
8	esv3343743	chr1:161695553-161698101	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161689000-161695600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:161692200-161695600	Enhancers	K562	blood
3	chr1:161692400-161695600	Weak transcription	Gastric	stomach
4	chr1:161692600-161695600	Weak transcription	HSMMtube	muscle
5	chr1:161693800-161695600	Enhancers	NHDF-Ad	bronchial
6	chr1:161694600-161695600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:161695000-161695600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:161695000-161695600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:161695000-161695600	Enhancers	Esophagus	oesophagus
10	chr1:161695000-161696000	Enhancers	Spleen	Spleen
11	chr1:161695200-161695600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:161695200-161695600	Enhancers	Liver	Liver
13	chr1:161695200-161695600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr1:161695200-161695800	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:161695400-161695600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:161695400-161695600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:161695400-161695600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:161695400-161695600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:161695400-161695600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:161695400-161695600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:161695400-161695600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:161695400-161695600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:161695400-161695600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:161695400-161695600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:161695400-161695600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:161695400-161695600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:161695400-161695600	Enhancers	Adipose Nuclei	Adipose
28	chr1:161695400-161695600	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr1:161695400-161695600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr1:161695400-161695600	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr1:161695400-161695600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:161695400-161695600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr1:161695400-161695600	Enhancers	Fetal Brain Male	brain
34	chr1:161695400-161695600	Flanking Active TSS	Fetal Brain Female	brain
35	chr1:161695400-161695600	Enhancers	Fetal Heart	heart
36	chr1:161695400-161695600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr1:161695400-161695600	Active TSS	Fetal Lung	lung
38	chr1:161695400-161695600	Enhancers	Placenta	Placenta
39	chr1:161695400-161695600	Bivalent Enhancer	Fetal Stomach	stomach
40	chr1:161695400-161695600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:161695400-161695600	Enhancers	Right Ventricle	heart
42	chr1:161695400-161695600	Active TSS	Stomach Smooth Muscle	stomach
43	chr1:161695400-161695600	Bivalent Enhancer	Dnd41	blood
44	chr1:161695400-161695600	Bivalent Enhancer	HepG2	liver
45	chr1:161695400-161695600	Enhancers	HMEC	breast
46	chr1:161695400-161695600	Enhancers	HUVEC	blood vessel
47	chr1:161695400-161695600	Enhancers	NHLF	lung
48	chr1:161695400-161695600	Flanking Active TSS	Osteobl	bone
49	chr1:161695400-161695800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr1:161695400-161695800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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