Variant report

Variant	rs60197111
Chromosome Location	chr14:21250500-21250501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr14:21250143-21250781	GM12878	blood:	n/a	n/a
2	STAT3	chr14:21250485-21250738	GM12878	blood:	n/a	n/a
3	EP300	chr14:21250245-21250882	GM12878	blood:	n/a	n/a
4	SPI1	chr14:21250431-21250785	GM12891	blood:	n/a	n/a
5	TAF1	chr14:21250422-21250811	GM12878	blood:	n/a	n/a
6	FOXA1	chr14:21250489-21250744	T-47D	breast:	n/a	n/a
7	RUNX3	chr14:21249992-21250955	GM12878	blood:	n/a	n/a
8	SPI1	chr14:21250500-21250696	GM12878	blood:	n/a	n/a
9	EBF1	chr14:21250248-21250944	GM12878	blood:	n/a	n/a
10	SPI1	chr14:21250367-21250901	HL-60	blood:	n/a	n/a
11	RUNX3	chr14:21249970-21250902	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:21249812-21250822	GM12892	blood:	n/a	n/a
13	MAX	chr14:21249998-21250772	GM12878	blood:	n/a	n/a
14	SPI1	chr14:21250483-21250837	HL-60	blood:	n/a	n/a
15	MTA3	chr14:21249802-21250923	GM12878	blood:	n/a	n/a
16	SPI1	chr14:21250415-21250768	GM12891	blood:	n/a	n/a
17	STAT1	chr14:21250350-21250550	GM12878	blood:	n/a	n/a
18	ATF2	chr14:21250349-21250851	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:21250458-21250734	GM12878	blood:	n/a	n/a
20	SMC3	chr14:21250490-21250827	GM12878	blood:	n/a	n/a
21	MXI1	chr14:21250176-21250679	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:21248439-21250889	GM12891	blood:	n/a	n/a
23	SPI1	chr14:21250432-21250831	GM12878	blood:	n/a	n/a
24	ETS1	chr14:21250350-21250809	GM12878	blood:	n/a	n/a
25	CHD2	chr14:21250477-21250708	GM12878	blood:	n/a	n/a
26	BCLAF1	chr14:21250190-21250826	GM12878	blood:	n/a	n/a
27	KAP1	chr14:21250153-21250930	HEK293	kidney:	n/a	n/a
28	GABPA	chr14:21250272-21250986	HL-60	blood:	n/a	n/a
29	ETS1	chr14:21250322-21250831	GM12878	blood:	n/a	n/a
30	RCOR1	chr14:21250487-21250688	GM12878	blood:	n/a	n/a
31	ELK1	chr14:21250496-21250852	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000258810	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10139501	1.00[AMR][1000 genomes]
rs10148607	1.00[AMR][1000 genomes]
rs57320287	1.00[AMR][1000 genomes]
rs762041	1.00[AMR][1000 genomes]
rs8005794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21248200-21251200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:21248200-21251800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr14:21248400-21250800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:21248600-21251400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr14:21248800-21250800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:21249000-21250800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr14:21249000-21251000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:21249000-21251000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:21249000-21251000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr14:21249000-21251000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:21249000-21251000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:21249000-21251200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:21249000-21251200	Enhancers	Fetal Heart	heart
14	chr14:21249000-21251200	Enhancers	HUVEC	blood vessel
15	chr14:21249000-21251600	Flanking Active TSS	Dnd41	blood
16	chr14:21249200-21250600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr14:21249200-21250600	Active TSS	Fetal Muscle Leg	muscle
18	chr14:21249200-21250800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:21249200-21250800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:21249200-21250800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr14:21249200-21250800	Flanking Active TSS	Fetal Thymus	thymus
22	chr14:21249200-21251000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr14:21249200-21251000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr14:21249200-21251000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr14:21249200-21251000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:21249200-21251200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:21249400-21250800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:21249400-21250800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:21249400-21250800	Active TSS	Placenta	Placenta
30	chr14:21249400-21251000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:21249400-21251400	Enhancers	Small Intestine	intestine
32	chr14:21249600-21250600	Active TSS	Adipose Nuclei	Adipose
33	chr14:21249600-21250800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:21249600-21251000	Enhancers	Fetal Intestine Small	intestine
35	chr14:21249800-21250600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:21249800-21250800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:21249800-21250800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr14:21249800-21250800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr14:21249800-21250800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr14:21249800-21250800	Flanking Active TSS	Thymus	Thymus
41	chr14:21250000-21250600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:21250000-21250600	Flanking Active TSS	Fetal Kidney	kidney
43	chr14:21250000-21250800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr14:21250000-21250800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr14:21250000-21250800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr14:21250000-21250800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr14:21250000-21250800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:21250000-21250800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr14:21250000-21251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:21250000-21251000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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