Variant report

Variant	rs368826511
Chromosome Location	chr13:76124153-76124154
allele	C/T
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	MXI1	chr13:76123358-76124731	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr13:76123304-76124192	H1-neurons	neurons:	n/a	n/a
3	MAX	chr13:76123221-76124773	HCT-116	colon:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
4	POLR2A	chr13:76123350-76124219	GM12892	blood:	n/a	n/a
5	POLR2A	chr13:76123155-76124625	PBDE	blood:	n/a	n/a
6	POLR2A	chr13:76123257-76124392	IMR90	lung:	n/a	n/a
7	BACH1	chr13:76123391-76124432	H1-hESC	embryonic stem cell:	n/a	n/a
8	RCOR1	chr13:76123338-76124727	Hela-S3	cervix:	n/a	n/a
9	CHD1	chr13:76122548-76124962	IMR90	lung:	n/a	n/a
10	MAX	chr13:76123189-76124235	MCF-7	breast:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
11	POLR2A	chr13:76123286-76124239	A549	lung:	n/a	n/a
12	KAP1	chr13:76123134-76124676	HEK293	kidney:	n/a	n/a
13	MAX	chr13:76123164-76124237	A549	lung:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
14	POLR2A	chr13:76123155-76124278	GM12878	blood:	n/a	n/a
15	TCF7L2	chr13:76123340-76124698	HCT-116	colon:	n/a	n/a
16	MAFK	chr13:76123351-76124588	Hela-S3	cervix:	n/a	n/a
17	YY1	chr13:76123414-76124259	ECC-1	luminal epithelium:	n/a	chr13:76124012-76124023 chr13:76123942-76123956
18	EGR1	chr13:76123506-76124169	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3AK20	chr13:76123351-76124282	PANC-1	pancreas:	n/a	n/a
20	MYC	chr13:76123121-76124399	A549	lung:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
21	SIN3AK20	chr13:76123257-76124713	K562	blood:	n/a	n/a
22	HMGN3	chr13:76123359-76124311	K562	blood:	n/a	n/a
23	POLR2A	chr13:76123798-76124233	GM12891	blood:	n/a	n/a
24	POU2F2	chr13:76123827-76124189	GM12891	blood:	n/a	n/a
25	POLR2A	chr13:76123312-76124620	K562	blood:	n/a	n/a
26	JUND	chr13:76122952-76124844	SK-N-SH	brain:	n/a	chr13:76124478-76124489 chr13:76124728-76124737
27	ARID3A	chr13:76123347-76124671	HepG2	liver:	n/a	n/a
28	TAF1	chr13:76123301-76124197	H1-hESC	embryonic stem cell:	n/a	n/a
29	KAP1	chr13:76123283-76125049	U2OS	brain:	n/a	n/a
30	POLR2A	chr13:76123365-76124293	HepG2	liver:	n/a	n/a
31	POLR2A	chr13:76123298-76124235	ECC-1	luminal epithelium:	n/a	n/a
32	CHD1	chr13:76123286-76124375	GM12878	blood:	n/a	n/a
33	POLR2A	chr13:76123347-76124180	GM15510	blood:	n/a	n/a
34	ZMIZ1	chr13:76123382-76124167	K562	blood:	n/a	n/a
35	MXI1	chr13:76123348-76124544	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr13:76123333-76124424	K562	blood:	n/a	n/a
37	TAF1	chr13:76123771-76124199	A549	lung:	n/a	n/a
38	ELF1	chr13:76123593-76124177	MCF-7	breast:	n/a	chr13:76123940-76123952
39	POLR2A	chr13:76123789-76124373	H1-hESC	embryonic stem cell:	n/a	n/a
40	HEY1	chr13:76123268-76124238	HepG2	liver:	n/a	n/a
41	MAZ	chr13:76123317-76124575	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
42	POLR2A	chr13:76123197-76124417	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr13:76123301-76124310	GM12892	blood:	n/a	n/a
44	POLR2A	chr13:76123720-76124243	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr13:76123322-76124336	GM19193	blood:	n/a	n/a
46	RAD21	chr13:76123176-76124345	HCT-116	colon:	n/a	chr13:76124293-76124303 chr13:76124291-76124303
47	MAX	chr13:76123330-76124615	Hela-S3	cervix:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
48	TBL1XR1	chr13:76123426-76124206	K562	blood:	n/a	n/a
49	POLR2A	chr13:76123306-76124644	HEK293	kidney:	n/a	n/a
50	TAF1	chr13:76123745-76124216	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:76124018..76125732-chr13:76125795..76127481,2	MCF-7	breast:
2	chr13:76123621..76124364-chrX:134654253..134654910,2	NB4	blood:
3	chr13:76124076..76125593-chr13:76162284..76165016,2	K562	blood:
4	chr13:76111452..76114150-chr13:76122087..76125338,6	MCF-7	breast:
5	chr13:76055137..76056712-chr13:76122225..76124650,2	MCF-7	breast:
6	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:
7	chr13:76109717..76113590-chr13:76122029..76126081,5	MCF-7	breast:

Variant related genes	Relation type
COMMD6	TF binding region
ENSG00000225235	Chromatin interaction
ENSG00000136111	Chromatin interaction
ENSG00000165359	Chromatin interaction
ENSG00000188243	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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv900566	chr13:76123678-76153748	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900567	chr13:76123678-76156136	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv900568	chr13:76123678-76159104	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv900569	chr13:76123678-76167433	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv900570	chr13:76123678-76176680	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
11	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76122800-76124800	Active TSS	Brain Anterior Caudate	brain
2	chr13:76122800-76124800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:76122800-76124800	Active TSS	A549	lung
4	chr13:76123000-76124400	Active TSS	Brain Cingulate Gyrus	brain
5	chr13:76123000-76124400	Active TSS	Brain Substantia Nigra	brain
6	chr13:76123000-76124400	Active TSS	Fetal Muscle Leg	muscle
7	chr13:76123000-76124600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:76123000-76124600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:76123000-76124600	Active TSS	Colonic Mucosa	Colon
10	chr13:76123000-76124600	Active TSS	Rectal Smooth Muscle	rectum
11	chr13:76123000-76124800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr13:76123000-76124800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:76123000-76124800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:76123000-76124800	Active TSS	Lung	lung
15	chr13:76123000-76124800	Active TSS	Stomach Smooth Muscle	stomach
16	chr13:76123000-76125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:76123000-76125200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:76123000-76125600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr13:76123200-76124200	Active TSS	Brain Germinal Matrix	brain
20	chr13:76123200-76124400	Active TSS	Brain Hippocampus Middle	brain
21	chr13:76123200-76124400	Active TSS	Colon Smooth Muscle	Colon
22	chr13:76123200-76124400	Active TSS	Duodenum Mucosa	Duodenum
23	chr13:76123200-76124400	Active TSS	Fetal Stomach	stomach
24	chr13:76123200-76124600	Active TSS	Psoas Muscle	Psoas
25	chr13:76123200-76124600	Active TSS	NH-A	brain
26	chr13:76123200-76124800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr13:76123200-76124800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:76123200-76124800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:76123200-76124800	Active TSS	Aorta	Aorta
30	chr13:76123200-76124800	Active TSS	Brain Angular Gyrus	brain
31	chr13:76123200-76124800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr13:76123200-76124800	Active TSS	Left Ventricle	heart
33	chr13:76123200-76124800	Active TSS	Ovary	ovary
34	chr13:76123200-76124800	Active TSS	Right Atrium	heart
35	chr13:76123200-76124800	Active TSS	Stomach Mucosa	stomach
36	chr13:76123200-76124800	Active TSS	HSMMtube	muscle
37	chr13:76123200-76125000	Active TSS	Fetal Intestine Small	intestine
38	chr13:76123200-76125000	Active TSS	Right Ventricle	heart
39	chr13:76123200-76125400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:76123400-76124200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:76123400-76124200	Active TSS	Primary T cells from cord blood	blood
42	chr13:76123400-76124200	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr13:76123400-76124200	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr13:76123400-76124200	Active TSS	Fetal Brain Female	brain
45	chr13:76123400-76124200	Active TSS	Fetal Lung	lung
46	chr13:76123400-76124400	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr13:76123400-76124400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr13:76123400-76124400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr13:76123400-76124400	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr13:76123400-76124400	Active TSS	Fetal Brain Male	brain

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