Variant report

Variant	rs556263683
Chromosome Location	chr15:30113621-30113622
allele	-/TAAA
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	chr15:30113398-30115359	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZKSCAN1	chr15:30113061-30115514	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:30113535-30115028	K562	blood:	n/a	n/a
4	GATA3	chr15:30113577-30114001	T-47D	breast:	n/a	n/a
5	POLR2A	chr15:30113551-30115407	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr15:30113238-30113972	K562	blood:	n/a	chr15:30113803-30113816 chr15:30113800-30113813 chr15:30113797-30113815
7	CREB1	chr15:30113501-30113970	A549	lung:	n/a	n/a
8	RAD21	chr15:30113579-30113895	SK-N-SH_RA	brain:	n/a	chr15:30113800-30113814 chr15:30113799-30113813 chr15:30113798-30113817
9	POLR2A	chr15:30113596-30115359	MCF-7	breast:	n/a	n/a
10	TEAD4	chr15:30113442-30113944	K562	blood:	n/a	n/a
11	MAX	chr15:30113540-30114011	SK-N-SH	brain:	n/a	n/a
12	MXI1	chr15:30113505-30113885	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr15:30113488-30115592	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr15:30113325-30113974	K562	blood:	n/a	chr15:30113815-30113833
15	SP1	chr15:30113522-30113955	H1-hESC	embryonic stem cell:	n/a	chr15:30113903-30113912 chr15:30113902-30113916 chr15:30113901-30113913
16	BHLHE40	chr15:30113347-30115139	K562	blood:	n/a	chr15:30114178-30114194 chr15:30113787-30113803 chr15:30113928-30113944
17	MYC	chr15:30113571-30113911	MCF10A-Er-Src	breast:	n/a	n/a
18	RAD21	chr15:30113517-30113970	SK-N-SH_RA	brain:	n/a	chr15:30113800-30113814 chr15:30113799-30113813 chr15:30113798-30113817
19	STAT3	chr15:30113602-30113846	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr15:30113139-30115318	K562	blood:	n/a	chr15:30115094-30115101
21	POLR2A	chr15:30113506-30114856	K562	blood:	n/a	n/a
22	POLR2A	chr15:30113539-30113976	K562	blood:	n/a	n/a
23	CEBPD	chr15:30113554-30113972	K562	blood:	n/a	n/a
24	MAZ	chr15:30113453-30115964	IMR90	lung:	n/a	chr15:30115094-30115101 chr15:30115485-30115492
25	JUN	chr15:30113377-30115390	K562	blood:	n/a	chr15:30115234-30115247 chr15:30114151-30114160 chr15:30115010-30115017
26	POLR2A	chr15:30113563-30114730	H1-hESC	embryonic stem cell:	n/a	n/a
27	GTF2F1	chr15:30113585-30113913	K562	blood:	n/a	n/a
28	ARID3A	chr15:30113508-30113944	HepG2	liver:	n/a	n/a
29	MXI1	chr15:30113596-30115631	HepG2	liver:	n/a	n/a
30	MAX	chr15:30113434-30115885	A549	lung:	n/a	chr15:30115094-30115101 chr15:30115485-30115492
31	POLR2A	chr15:30113592-30115153	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr15:30113490-30114715	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr15:30113529-30115182	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:30113502-30113973	U87	brain:	n/a	n/a
35	POLR2A	chr15:30113578-30113998	HCT-116	colon:	n/a	n/a
36	RUNX3	chr15:30113598-30113875	GM12878	blood:	n/a	n/a
37	RAD21	chr15:30112949-30115674	IMR90	lung:	n/a	chr15:30113800-30113814 chr15:30114137-30114151 chr15:30115251-30115264 chr15:30113799-30113813 chr15:30113798-30113817
38	POLR2A	chr15:30113617-30115304	MCF-7	breast:	n/a	n/a
39	ARID3A	chr15:30113516-30113887	K562	blood:	n/a	n/a
40	TCF12	chr15:30113343-30114036	A549	lung:	n/a	n/a
41	POLR2A	chr15:30113188-30115437	HUVEC	blood vessel:	n/a	n/a
42	CREB1	chr15:30113591-30114010	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr15:30111618-30116068	IMR90	lung:	n/a	n/a
44	RAD21	chr15:30113530-30113928	HepG2	liver:	n/a	chr15:30113800-30113814 chr15:30113799-30113813 chr15:30113798-30113817
45	HDAC2	chr15:30113577-30113997	K562	blood:	n/a	n/a
46	RFX5	chr15:30112795-30113911	Hela-S3	cervix:	n/a	n/a
47	TCF7L2	chr15:30113555-30113903	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr15:30113502-30113966	A549	lung:	n/a	chr15:30113800-30113814 chr15:30113799-30113813 chr15:30113798-30113817
49	GTF2F1	chr15:30113553-30113892	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:30113560-30115015	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:30111283..30113750-chr22:19879705..19881456,2	K562	blood:
2	chr12:57913766..57914507-chr15:30113406..30114143,2	Hela-S3	cervix:
3	chr15:30113418..30114284-chr5:10249625..10250242,2	Hela-S3	cervix:
4	chr15:30033909..30035507-chr15:30113047..30114881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259523	TF binding region
ENSG00000150756	Chromatin interaction
ENSG00000104067	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000166987	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv827275	chr15:30110266-30115636	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3437718	chr15:30112685-30116033	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30110400-30115400	Active TSS	Right Atrium	heart
2	chr15:30111400-30115000	Active TSS	NHLF	lung
3	chr15:30111400-30115600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:30111600-30114400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr15:30111600-30115000	Active TSS	Fetal Muscle Leg	muscle
6	chr15:30111600-30115000	Active TSS	HSMM	muscle
7	chr15:30111600-30115000	Active TSS	K562	blood
8	chr15:30111600-30115000	Active TSS	NH-A	brain
9	chr15:30111600-30115200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:30111600-30115200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr15:30111600-30115200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr15:30111600-30115200	Active TSS	Right Ventricle	heart
13	chr15:30111600-30115400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:30111600-30115400	Active TSS	Psoas Muscle	Psoas
15	chr15:30111600-30115400	Active TSS	Stomach Smooth Muscle	stomach
16	chr15:30111800-30114800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:30111800-30115200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:30111800-30115200	Active TSS	Colon Smooth Muscle	Colon
19	chr15:30111800-30115200	Active TSS	HSMMtube	muscle
20	chr15:30111800-30115400	Active TSS	Aorta	Aorta
21	chr15:30111800-30115600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr15:30111800-30115600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr15:30112000-30113800	Active TSS	Fetal Heart	heart
24	chr15:30112000-30115000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:30112000-30115000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:30112000-30115000	Active TSS	Placenta	Placenta
27	chr15:30112000-30115000	Active TSS	HMEC	breast
28	chr15:30112000-30115200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:30112000-30115200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr15:30112000-30115200	Active TSS	Rectal Smooth Muscle	rectum
31	chr15:30112200-30114200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:30112200-30115000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr15:30112200-30115200	Active TSS	Ovary	ovary
34	chr15:30112400-30114800	Active TSS	Fetal Stomach	stomach
35	chr15:30112400-30114800	Active TSS	HepG2	liver
36	chr15:30112400-30115000	Active TSS	Brain Anterior Caudate	brain
37	chr15:30112400-30115200	Active TSS	Fetal Intestine Large	intestine
38	chr15:30112400-30115200	Active TSS	Left Ventricle	heart
39	chr15:30112400-30115200	Active TSS	A549	lung
40	chr15:30112400-30115600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:30112600-30114000	Active TSS	Fetal Brain Male	brain
42	chr15:30112600-30115000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr15:30112600-30115000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr15:30112600-30115000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:30112600-30115200	Active TSS	H9 Cell Line	embryonic stem cell
46	chr15:30112600-30115200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr15:30112600-30115200	Active TSS	Fetal Brain Female	brain
48	chr15:30112600-30115400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr15:30112600-30115400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:30112800-30114800	Active TSS	Fetal Muscle Trunk	muscle

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