Variant report

Variant	rs376905999
Chromosome Location	chr22:30685337-30685338
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	chr22:30685164-30685987	K562	blood:	n/a	n/a
2	ZBTB7A	chr22:30684655-30685733	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr22:30685314-30686056	HCT-116	colon:	n/a	n/a
4	PML	chr22:30685241-30686822	GM12878	blood:	n/a	chr22:30685671-30685679
5	NFIC	chr22:30685196-30685846	ECC-1	luminal epithelium:	n/a	n/a
6	PAX5	chr22:30685274-30685920	GM12878	blood:	n/a	chr22:30685689-30685698
7	POLR2A	chr22:30685296-30685725	IMR90	lung:	n/a	n/a
8	POLR2A	chr22:30685283-30685687	HCT-116	colon:	n/a	n/a
9	MAX	chr22:30685232-30686081	ECC-1	luminal epithelium:	n/a	chr22:30685833-30685843
10	CTCF	chr22:30685240-30685390	SAEC	small airway:	n/a	n/a
11	POLR2A	chr22:30685235-30687312	GM12878	blood:	n/a	n/a
12	TAF1	chr22:30685304-30685654	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr22:30685284-30686039	A549	lung:	n/a	chr22:30685790-30685802 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685537-30685546 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685536-30685548 chr22:30685834-30685847 chr22:30685536-30685548 chr22:30685817-30685826 chr22:30685538-30685547 chr22:30685816-30685825 chr22:30685816-30685825 chr22:30685655-30685665 chr22:30685844-30685856
14	POLR2A	chr22:30685039-30685771	HepG2	liver:	n/a	n/a
15	POLR2A	chr22:30685301-30685721	SK-N-SH	brain:	n/a	n/a
16	RUNX3	chr22:30685267-30685885	GM12878	blood:	n/a	n/a
17	MAX	chr22:30685224-30686161	A549	lung:	n/a	chr22:30685833-30685843
18	POLR2A	chr22:30685244-30685932	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr22:30685222-30685898	ECC-1	luminal epithelium:	n/a	n/a
20	HMGN3	chr22:30684909-30686005	K562	blood:	n/a	n/a
21	POLR2A	chr22:30685268-30686959	GM18951	blood:	n/a	n/a
22	POLR2A	chr22:30685275-30685603	H1-hESC	embryonic stem cell:	n/a	n/a
23	CCNT2	chr22:30685318-30685922	K562	blood:	n/a	chr22:30685817-30685826
24	POLR2A	chr22:30685211-30685961	HUVEC	blood vessel:	n/a	n/a
25	YY1	chr22:30685086-30686214	HepG2	liver:	n/a	chr22:30685545-30685554 chr22:30685252-30685263 chr22:30685543-30685554 chr22:30686095-30686106 chr22:30685546-30685557 chr22:30685581-30685592 chr22:30685219-30685238
26	ZNF263	chr22:30685054-30685707	HEK293-T-REx	kidney:	n/a	n/a
27	NFATC1	chr22:30685265-30686335	GM12878	blood:	n/a	chr22:30685853-30685866
28	POLR2A	chr22:30685098-30686646	H1-hESC	embryonic stem cell:	n/a	n/a
29	RCOR1	chr22:30685285-30686404	GM12878	blood:	n/a	n/a
30	BCL3	chr22:30685237-30686243	GM12878	blood:	n/a	chr22:30685602-30685615 chr22:30685546-30685555 chr22:30685541-30685554 chr22:30685543-30685552 chr22:30685260-30685273 chr22:30685580-30685593 chr22:30685254-30685267 chr22:30685598-30685611
31	POLR2A	chr22:30685186-30686444	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr22:30685195-30686178	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr22:30685192-30686158	MCF-7	breast:	n/a	chr22:30685833-30685843
34	SP1	chr22:30685319-30686047	H1-hESC	embryonic stem cell:	n/a	chr22:30685790-30685802 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685537-30685546 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685536-30685548 chr22:30685834-30685847 chr22:30685536-30685548 chr22:30685817-30685826 chr22:30685538-30685547 chr22:30685816-30685825 chr22:30685816-30685825 chr22:30685655-30685665 chr22:30685844-30685856
35	ZBTB7A	chr22:30684611-30685906	K562	blood:	n/a	chr22:30685829-30685838
36	POLR2A	chr22:30685291-30687284	GM12892	blood:	n/a	n/a
37	POLR2A	chr22:30685327-30687530	GM18505	blood:	n/a	n/a
38	PBX3	chr22:30685320-30686020	SK-N-SH	brain:	n/a	n/a
39	ZBTB7A	chr22:30685278-30685521	HepG2	liver:	n/a	n/a
40	YY1	chr22:30685035-30685637	GM12892	blood:	n/a	chr22:30685545-30685554 chr22:30685252-30685263 chr22:30685543-30685554 chr22:30685546-30685557 chr22:30685581-30685592 chr22:30685219-30685238
41	POLR2A	chr22:30685244-30685788	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr22:30685249-30686464	MCF-7	breast:	n/a	n/a
43	SIN3AK20	chr22:30685279-30685530	A549	lung:	n/a	n/a
44	CTCF	chr22:30685260-30685410	AG04449	skin:	n/a	n/a
45	PBX3	chr22:30685275-30686176	SK-N-SH	brain:	n/a	n/a
46	ELF1	chr22:30685101-30687172	GM12878	blood:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30685584-30685593 chr22:30686342-30686351 chr22:30685383-30685396
47	POLR2A	chr22:30685305-30687090	GM15510	blood:	n/a	n/a
48	SIN3AK20	chr22:30685333-30685714	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr22:30685275-30686136	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr22:30685325-30685912	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
2	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
3	chr22:30684284..30686749-chr22:30752450..30754272,3	MCF-7	breast:
4	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
5	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
6	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
7	chr22:30660837..30662614-chr22:30683520..30685637,2	MCF-7	breast:
8	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
9	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
10	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
11	chr22:30683831..30686273-chr22:30722432..30724567,2	K562	blood:
12	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
13	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
14	chr22:30683198..30685731-chr22:30819153..30821641,4	K562	blood:
15	chr22:30683032..30685513-chr3:161089094..161092006,2	MCF-7	breast:
16	chr22:30684393..30686613-chr22:30820961..30823363,3	MCF-7	breast:

Variant related genes	Relation type
GATSL3	TF binding region
ENSG00000242114	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099985	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv522605	chr22:30685076-30691631	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	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	chr22:30683600-30686800	Flanking Active TSS	Dnd41	blood
2	chr22:30683800-30685400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr22:30683800-30686000	Active TSS	Fetal Kidney	kidney
4	chr22:30684000-30685400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr22:30684000-30685400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr22:30684000-30686000	Active TSS	Brain Anterior Caudate	brain
7	chr22:30684000-30686400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:30684000-30686600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr22:30684200-30685400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:30684200-30685400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:30684200-30685800	Active TSS	HSMMtube	muscle
12	chr22:30684200-30686000	Active TSS	Right Atrium	heart
13	chr22:30684200-30686200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr22:30684200-30686200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr22:30684200-30686200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr22:30684200-30686200	Active TSS	Brain Angular Gyrus	brain
17	chr22:30684200-30686200	Enhancers	Fetal Brain Male	brain
18	chr22:30684200-30686200	Active TSS	Ovary	ovary
19	chr22:30684400-30685400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:30684400-30685400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr22:30684400-30685400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr22:30684400-30685400	Flanking Active TSS	HMEC	breast
23	chr22:30684400-30686000	Active TSS	Brain Substantia Nigra	brain
24	chr22:30684400-30686000	Active TSS	Left Ventricle	heart
25	chr22:30684400-30686200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:30684400-30686200	Active TSS	Aorta	Aorta
27	chr22:30684400-30686200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr22:30684600-30685400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:30684600-30685400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr22:30684600-30685400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr22:30684600-30685400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:30684600-30685800	Active TSS	Fetal Lung	lung
33	chr22:30684600-30686000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:30684600-30686000	Active TSS	A549	lung
35	chr22:30684600-30686200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr22:30684600-30686200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr22:30684600-30686200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:30684600-30686200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr22:30684600-30686200	Active TSS	Small Intestine	intestine
40	chr22:30684600-30686400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr22:30684800-30685400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr22:30684800-30685600	Active TSS	Gastric	stomach
43	chr22:30684800-30685600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr22:30684800-30685800	Active TSS	HSMM	muscle
45	chr22:30684800-30685800	Active TSS	NHDF-Ad	bronchial
46	chr22:30684800-30686000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr22:30684800-30686000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:30684800-30686000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:30684800-30686000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:30684800-30686000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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