Variant report

Variant	rs557813131
Chromosome Location	chr2:97481213-97481214
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	POLR2A	chr2:97481067-97481313	K562	blood:	n/a	n/a
2	POLR2A	chr2:97481096-97483863	GM12878	blood:	n/a	n/a
3	HCFC1	chr2:97481193-97481374	K562	blood:	n/a	n/a
4	TCF7L2	chr2:97481045-97481495	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr2:97481051-97482332	MCF-7	breast:	n/a	n/a
6	ZNF263	chr2:97481138-97486512	HEK293-T-REx	kidney:	n/a	chr2:97486292-97486301 chr2:97484433-97484454
7	MAFK	chr2:97480692-97481707	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:97481088-97483359	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:97481096-97481430	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr2:97481116-97482966	GM12878	blood:	n/a	n/a
11	MTA3	chr2:97480937-97481766	GM12878	blood:	n/a	n/a
12	CREB1	chr2:97481057-97483477	HepG2	liver:	n/a	n/a
13	WRNIP1	chr2:97481112-97481444	GM12878	blood:	n/a	n/a
14	MAZ	chr2:97481166-97481319	HepG2	liver:	n/a	n/a
15	MYC	chr2:97481030-97483235	NB4	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
16	MXI1	chr2:97481062-97483293	HepG2	liver:	n/a	n/a
17	MYC	chr2:97481145-97482722	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
18	MAX	chr2:97480968-97483512	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
19	E2F6	chr2:97481153-97482170	H1-hESC	embryonic stem cell:	n/a	chr2:97481751-97481760 chr2:97481958-97481967 chr2:97481364-97481376 chr2:97481896-97481905
20	BHLHE40	chr2:97481163-97482572	GM12878	blood:	n/a	n/a
21	ELF1	chr2:97481055-97482523	GM12878	blood:	n/a	chr2:97481895-97481907 chr2:97481703-97481715 chr2:97481902-97481914
22	MXI1	chr2:97481070-97483573	IMR90	lung:	n/a	n/a
23	POLR2A	chr2:97480971-97482986	MCF10A-Er-Src	breast:	n/a	n/a
24	HDAC2	chr2:97481143-97482361	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:97481120-97481270	MCF-7	breast:	n/a	n/a
26	SIN3A	chr2:97481117-97483408	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr2:97481187-97482710	K562	blood:	n/a	chr2:97481901-97481911
28	HCFC1	chr2:97480652-97483529	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr2:97481020-97481525	K562	blood:	n/a	n/a
30	MXI1	chr2:97480896-97483426	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr2:97481119-97483308	Hela-S3	cervix:	n/a	chr2:97481901-97481911
32	MBD4	chr2:97481090-97481723	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:97481063-97483472	Hela-S3	cervix:	n/a	n/a
34	SMARCB1	chr2:97481172-97483331	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr2:97481080-97481230	Caco-2	colon:	n/a	n/a
36	ZKSCAN1	chr2:97481086-97482596	Hela-S3	cervix:	n/a	n/a
37	HDAC2	chr2:97481138-97482791	HepG2	liver:	n/a	n/a
38	ELK1	chr2:97481075-97482140	Hela-S3	cervix:	n/a	n/a
39	REST	chr2:97481102-97481688	HL-60	blood:	n/a	chr2:97481304-97481313 chr2:97481673-97481686
40	MAX	chr2:97480929-97483545	HepG2	liver:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
41	MXI1	chr2:97480568-97483974	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr2:97480952-97484103	HepG2	liver:	n/a	n/a
43	MAX	chr2:97481128-97483640	HepG2	liver:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
44	RCOR1	chr2:97481017-97482558	K562	blood:	n/a	n/a
45	MAX	chr2:97481072-97483296	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
46	POLR2A	chr2:97481138-97482959	GM18951	blood:	n/a	n/a
47	PML	chr2:97481060-97482400	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:97481071-97483252	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:97480995-97481547	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr2:97481028-97481882	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97302043..97304772-chr2:97480834..97485283,4	K562	blood:
2	chr2:97302952..97305022-chr2:97481063..97483448,2	MCF-7	breast:
3	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
4	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
5	chr2:97480158..97482561-chr2:97778545..97780856,2	MCF-7	breast:
6	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
7	chr2:97480273..97481938-chr2:97629439..97631749,2	MCF-7	breast:
8	chr2:97480034..97481965-chr2:97506952..97509258,2	MCF-7	breast:
9	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
10	chr2:97480014..97482644-chr2:97518894..97524629,5	MCF-7	breast:
11	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD23-2	chr2:97480684-97481990	NONHSAT072586
2	lnc-ANKRD23-2	chr2:97480968-97481762	NONHSAT072587

Variant related genes	Relation type
CNNM3	TF binding region
ENSG00000273265	TF binding region
ENSG00000135976	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	esv3419974	chr2:97480425-97484723	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv3522461	chr2:97480625-97484323	Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97480800-97481400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:97480800-97481400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr2:97480800-97481400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr2:97480800-97481400	Flanking Active TSS	Brain Anterior Caudate	brain
5	chr2:97480800-97481400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr2:97480800-97481400	Flanking Active TSS	Fetal Heart	heart
7	chr2:97480800-97481400	Flanking Active TSS	Dnd41	blood
8	chr2:97480800-97481600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:97480800-97481600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:97480800-97481600	Flanking Active TSS	Liver	Liver
11	chr2:97480800-97481600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr2:97480800-97481600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr2:97480800-97481600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:97480800-97482800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:97480800-97483000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:97480800-97483000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:97481000-97481400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:97481000-97481400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:97481000-97481400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:97481000-97481400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:97481000-97481400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:97481000-97481400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr2:97481000-97481400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:97481000-97481400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr2:97481000-97481400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:97481000-97481400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr2:97481000-97481400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:97481000-97481400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:97481000-97481400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr2:97481000-97481400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr2:97481000-97481400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:97481000-97481400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:97481000-97481400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:97481000-97481400	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr2:97481000-97481400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr2:97481000-97481400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr2:97481000-97481400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:97481000-97481400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:97481000-97481400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr2:97481000-97481400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr2:97481000-97481400	Flanking Active TSS	Fetal Brain Male	brain
42	chr2:97481000-97481400	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr2:97481000-97481400	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr2:97481000-97481400	Flanking Active TSS	Fetal Kidney	kidney
45	chr2:97481000-97481400	Flanking Active TSS	Fetal Lung	lung
46	chr2:97481000-97481400	Flanking Active TSS	Fetal Thymus	thymus
47	chr2:97481000-97481400	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr2:97481000-97481400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:97481000-97481400	Flanking Active TSS	HMEC	breast
50	chr2:97481000-97481400	Flanking Active TSS	HSMMtube	muscle

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