Variant report

Variant	rs150399844
Chromosome Location	chr2:98281208-98281209
allele	A/C
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	GTF2F1	chr2:98280564-98281429	Hela-S3	cervix:	n/a	n/a
2	YY1	chr2:98280752-98281241	K562	blood:	n/a	n/a
3	IRF1	chr2:98279227-98281284	K562	blood:	n/a	chr2:98280508-98280522 chr2:98279778-98279792 chr2:98280584-98280598 chr2:98280523-98280532
4	EP300	chr2:98280437-98281213	A549	lung:	n/a	chr2:98280558-98280574 chr2:98280559-98280575
5	TBP	chr2:98279760-98281425	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:98279079-98281239	GM19099	blood:	n/a	n/a
7	CEBPB	chr2:98280877-98281276	K562	blood:	n/a	n/a
8	SIN3AK20	chr2:98280240-98281289	MCF-7	breast:	n/a	n/a
9	CTCF	chr2:98281180-98281330	AoAF	blood vessel:	n/a	n/a
10	EP300	chr2:98280541-98281392	GM12878	blood:	n/a	chr2:98280558-98280574 chr2:98280559-98280575
11	RELA	chr2:98279075-98281449	GM15510	blood:	n/a	n/a
12	EP300	chr2:98280569-98281633	K562	blood:	n/a	n/a
13	POLR2A	chr2:98278878-98281363	K562	blood:	n/a	n/a
14	GTF3C2	chr2:98280753-98281488	Hela-S3	cervix:	n/a	n/a
15	MYC	chr2:98279116-98281408	NB4	blood:	n/a	chr2:98280224-98280234 chr2:98279386-98279396
16	MAZ	chr2:98279123-98281339	K562	blood:	n/a	chr2:98280224-98280234
17	HA-E2F1	chr2:98279479-98281376	MCF-7	breast:	n/a	chr2:98280412-98280424 chr2:98280708-98280719 chr2:98280523-98280532 chr2:98280224-98280233 chr2:98280585-98280594 chr2:98280361-98280370
18	JUND	chr2:98279156-98281542	K562	blood:	n/a	chr2:98280407-98280416 chr2:98279467-98279478 chr2:98279470-98279477 chr2:98280411-98280420 chr2:98279375-98279383 chr2:98279468-98279477 chr2:98279373-98279384 chr2:98279468-98279478 chr2:98279468-98279478 chr2:98280223-98280232
19	RFX5	chr2:98279178-98281483	Hela-S3	cervix:	n/a	chr2:98280645-98280659
20	CHD2	chr2:98281091-98281621	K562	blood:	n/a	n/a
21	POLR2A	chr2:98279226-98281507	K562	blood:	n/a	n/a
22	BHLHE40	chr2:98279195-98281292	K562	blood:	n/a	chr2:98280437-98280453 chr2:98280556-98280572
23	POLR2A	chr2:98278131-98281374	Hela-S3	cervix:	n/a	n/a
24	TBP	chr2:98279169-98281431	K562	blood:	n/a	n/a
25	CTCF	chr2:98280652-98281265	IMR90	lung:	n/a	n/a
26	MYC	chr2:98279854-98281217	MCF10A-Er-Src	breast:	n/a	chr2:98280224-98280234
27	JUN	chr2:98280437-98281508	K562	blood:	n/a	chr2:98280674-98280687
28	CTCF	chr2:98280552-98281233	GM12878	blood:	n/a	chr2:98280555-98280563
29	TBL1XR1	chr2:98280464-98281818	K562	blood:	n/a	n/a
30	HCFC1	chr2:98278895-98281591	Hela-S3	cervix:	n/a	n/a
31	SMC3	chr2:98280663-98281439	GM12878	blood:	n/a	n/a
32	SMC3	chr2:98280501-98281415	Hela-S3	cervix:	n/a	n/a
33	ZNF143	chr2:98279078-98281229	GM12878	blood:	n/a	chr2:98279486-98279504 chr2:98280360-98280370 chr2:98280366-98280384 chr2:98280224-98280234
34	REST	chr2:98279104-98281589	H1-neurons	neurons:	n/a	chr2:98279722-98279740
35	RAD21	chr2:98280710-98281261	MCF-7	breast:	n/a	n/a
36	NFIC	chr2:98280423-98281260	GM12878	blood:	n/a	n/a
37	EP300	chr2:98280562-98281357	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:98278016-98282070	HepG2	liver:	n/a	n/a
39	TAF1	chr2:98280405-98281278	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr2:98280539-98281245	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr2:98279158-98281635	PBDE	blood:	n/a	n/a
42	TCF7L2	chr2:98280569-98281310	Hela-S3	cervix:	n/a	n/a
43	ATF2	chr2:98280417-98281246	GM12878	blood:	n/a	n/a
44	SIX5	chr2:98280596-98281377	A549	lung:	n/a	n/a
45	NR2F2	chr2:98280450-98281295	K562	blood:	n/a	n/a
46	RFX5	chr2:98280471-98281228	H1-hESC	embryonic stem cell:	n/a	chr2:98280645-98280659
47	RAD21	chr2:98280650-98281235	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr2:98278816-98281671	IMR90	lung:	n/a	chr2:98280105-98280115
49	RCOR1	chr2:98279141-98281467	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr2:98278862-98281848	SK-N-SH	brain:	n/a	chr2:98280555-98280563 chr2:98280387-98280400 chr2:98279033-98279046 chr2:98279295-98279308

No.	Distal block	Cell Line	Cell type
1	chr2:98205848..98207835-chr2:98279004..98283186,3	MCF-7	breast:
2	chr2:98206110..98207769-chr2:98279652..98281540,2	K562	blood:
3	chr2:98279098..98281561-chr2:98304916..98307735,3	MCF-7	breast:
4	chr2:98279310..98282281-chr2:98310556..98313961,3	MCF-7	breast:
5	chr2:98279912..98282586-chr2:98290130..98292098,3	K562	blood:
6	chr12:52444633..52445269-chr2:98280481..98281231,2	Hela-S3	cervix:
7	chr2:98279581..98281603-chr2:98351078..98353477,2	K562	blood:
8	chr2:98278667..98281978-chr2:98283382..98286512,4	K562	blood:
9	chr2:98278665..98281371-chr2:98305087..98308005,4	MCF-7	breast:
10	chr12:120730616..120731276-chr2:98281104..98281615,2	NB4	blood:
11	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZAP70-2	chr2:98280748-98282910	NONHSAT072664

Variant related genes	Relation type
LINC01125	TF binding region
RNU4-8P	TF binding region
ACTR1B	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000196912	Chromatin interaction
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv3435324	chr2:98279520-98282118	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:98278600-98281600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:98278800-98281400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:98279000-98281400	Active TSS	Ovary	ovary
4	chr2:98279000-98281400	Active TSS	Psoas Muscle	Psoas
5	chr2:98279200-98281400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:98279200-98281400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:98279200-98281400	Active TSS	Left Ventricle	heart
8	chr2:98279200-98281400	Active TSS	GM12878-XiMat	blood
9	chr2:98279200-98281400	Active TSS	NHLF	lung
10	chr2:98279200-98281600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:98279200-98281600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:98279200-98281800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:98279200-98281800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:98279200-98281800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:98279400-98281400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:98279400-98281400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:98279400-98281400	Active TSS	Lung	lung
18	chr2:98279400-98281400	Active TSS	NHDF-Ad	bronchial
19	chr2:98279400-98281600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr2:98279400-98281600	Active TSS	Right Ventricle	heart
21	chr2:98279400-98281600	Active TSS	HSMM	muscle
22	chr2:98279400-98281800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:98279400-98281800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:98279400-98282000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:98279600-98281400	Active TSS	Esophagus	oesophagus
26	chr2:98279600-98281400	Active TSS	Fetal Intestine Large	intestine
27	chr2:98279600-98281400	Active TSS	Placenta Amnion	Placenta Amnion
28	chr2:98279600-98281400	Active TSS	A549	lung
29	chr2:98279600-98281600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:98279600-98281600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr2:98279600-98281600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:98279600-98281600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:98279600-98281600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:98279600-98281600	Active TSS	Pancreas	Pancrea
35	chr2:98279800-98281400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr2:98279800-98281400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:98279800-98281400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:98279800-98281400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr2:98279800-98281400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:98279800-98281400	Active TSS	Brain Anterior Caudate	brain
41	chr2:98279800-98281400	Active TSS	Brain Germinal Matrix	brain
42	chr2:98279800-98281400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:98279800-98281400	Active TSS	Duodenum Mucosa	Duodenum
44	chr2:98279800-98281400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr2:98279800-98281400	Active TSS	Fetal Brain Male	brain
46	chr2:98279800-98281400	Active TSS	Fetal Intestine Small	intestine
47	chr2:98279800-98281400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr2:98279800-98281400	Active TSS	Rectal Smooth Muscle	rectum
49	chr2:98279800-98281400	Active TSS	K562	blood
50	chr2:98279800-98281600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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