Variant report

Variant	rs200171507
Chromosome Location	chr2:97482926-97482927
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	GTF2F1	chr2:97482890-97483046	K562	blood:	n/a	n/a
2	POLR2A	chr2:97481096-97483863	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr2:97482839-97483063	K562	blood:	n/a	n/a
4	ZNF263	chr2:97481138-97486512	HEK293-T-REx	kidney:	n/a	chr2:97486292-97486301 chr2:97484433-97484454
5	POLR2A	chr2:97481088-97483359	Hela-S3	cervix:	n/a	n/a
6	MAX	chr2:97481293-97483422	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
7	MXI1	chr2:97481116-97482966	GM12878	blood:	n/a	n/a
8	CREB1	chr2:97481057-97483477	HepG2	liver:	n/a	n/a
9	TCF7L2	chr2:97481852-97483027	HCT-116	colon:	n/a	n/a
10	MYC	chr2:97481030-97483235	NB4	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
11	MXI1	chr2:97481062-97483293	HepG2	liver:	n/a	n/a
12	MAX	chr2:97480968-97483512	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
13	POLR2A	chr2:97481528-97483244	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:97481616-97483172	A549	lung:	n/a	n/a
15	MXI1	chr2:97481070-97483573	IMR90	lung:	n/a	n/a
16	FOXA1	chr2:97481536-97483014	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:97480971-97482986	MCF10A-Er-Src	breast:	n/a	n/a
18	HA-E2F1	chr2:97481304-97483165	Hela-S3	cervix:	n/a	chr2:97481751-97481760 chr2:97481958-97481967 chr2:97481364-97481376 chr2:97481896-97481905
19	SIN3A	chr2:97481117-97483408	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr2:97481402-97482930	PANC-1	pancreas:	n/a	n/a
21	HCFC1	chr2:97480652-97483529	Hela-S3	cervix:	n/a	n/a
22	E2F6	chr2:97481217-97483303	K562	blood:	n/a	chr2:97481751-97481760 chr2:97482970-97482985 chr2:97482596-97482608 chr2:97481958-97481967 chr2:97481364-97481376 chr2:97481896-97481905
23	MXI1	chr2:97480896-97483426	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr2:97481119-97483308	Hela-S3	cervix:	n/a	chr2:97481901-97481911
25	POLR2A	chr2:97481063-97483472	Hela-S3	cervix:	n/a	n/a
26	SMARCB1	chr2:97481172-97483331	Hela-S3	cervix:	n/a	n/a
27	MAX	chr2:97480929-97483545	HepG2	liver:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
28	POLR2A	chr2:97481259-97483046	GM19193	blood:	n/a	n/a
29	MXI1	chr2:97480568-97483974	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr2:97480952-97484103	HepG2	liver:	n/a	n/a
31	MAX	chr2:97481128-97483640	HepG2	liver:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
32	MAX	chr2:97481072-97483296	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
33	POLR2A	chr2:97481138-97482959	GM18951	blood:	n/a	n/a
34	POLR2A	chr2:97481071-97483252	HepG2	liver:	n/a	n/a
35	HNF4A	chr2:97481659-97483041	HepG2	liver:	n/a	n/a
36	CCNT2	chr2:97481565-97483130	K562	blood:	n/a	n/a
37	POLR2A	chr2:97481540-97483227	A549	lung:	n/a	n/a
38	POLR2A	chr2:97482879-97483131	Gliobla	brain:	n/a	n/a
39	UBTF	chr2:97481364-97482965	K562	blood:	n/a	n/a
40	MYC	chr2:97480972-97483303	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
41	POLR2A	chr2:97482826-97483301	H1-neurons	neurons:	n/a	n/a
42	MAX	chr2:97481367-97483123	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
43	MAX	chr2:97481329-97483376	ECC-1	luminal epithelium:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
44	MYC	chr2:97481720-97483213	MCF-7	breast:	n/a	chr2:97481901-97481911
45	TFAP2C	chr2:97481975-97482941	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr2:97481500-97483308	K562	blood:	n/a	n/a
47	E2F1	chr2:97481503-97483074	Hela-S3	cervix:	n/a	chr2:97481751-97481760 chr2:97482970-97482985 chr2:97482596-97482608 chr2:97481958-97481967 chr2:97481896-97481905
48	MAX	chr2:97481078-97483061	NB4	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
49	POLR2A	chr2:97481555-97483298	A549	lung:	n/a	n/a
50	MAX	chr2:97482829-97483304	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97302043..97304772-chr2:97480834..97485283,4	K562	blood:
2	chr2:97481720..97483625-chr2:97563695..97565331,2	MCF-7	breast:
3	chr2:97302952..97305022-chr2:97481063..97483448,2	MCF-7	breast:
4	chr2:97481636..97484312-chr2:97528160..97530681,3	MCF-7	breast:
5	chr2:97482890..97484803-chr2:97649558..97651545,2	MCF-7	breast:
6	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
7	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
8	chr2:97303859..97305572-chr2:97481972..97484956,2	K562	blood:
9	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
10	chr2:97426447..97426998-chr2:97482596..97483465,2	MCF-7	breast:
11	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
12	chr2:97482077..97484941-chr2:97522185..97524472,2	MCF-7	breast:
13	chr2:97302401..97304754-chr2:97481583..97484330,2	MCF-7	breast:
14	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
15	chr2:97481330..97485256-chr2:97521136..97525640,5	K562	blood:
16	chr17:57913918..57915795-chr2:97481404..97483312,2	MCF-7	breast:
17	chr2:97482548..97484049-chr5:176980916..176982734,2	MCF-7	breast:
18	chr2:97482924..97486110-chr2:97522270..97524804,3	MCF-7	breast:
19	chr2:97482549..97484070-chr5:176981046..176982847,2	MCF-7	breast:
20	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:
21	chr2:97481330..97483685-chr2:97521136..97525158,3	K562	blood:

Variant related genes	Relation type
ENSG00000273265	TF binding region
ENSG00000146067	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
15	esv3522462	chr2:97481225-97484298	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv3522464	chr2:97481225-97484298	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr2:97480800-97483000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:97480800-97483000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:97481000-97483000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:97481000-97483000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:97481000-97483000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:97481000-97483000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:97481000-97483000	Active TSS	Fetal Stomach	stomach
8	chr2:97481000-97483000	Active TSS	Ovary	ovary
9	chr2:97481000-97483000	Active TSS	Psoas Muscle	Psoas
10	chr2:97481000-97483200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:97481000-97483400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:97481000-97484000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:97481200-97483000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:97481200-97483000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:97481200-97483000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:97481200-97483000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:97481200-97483000	Active TSS	Esophagus	oesophagus
18	chr2:97481200-97483000	Active TSS	Gastric	stomach
19	chr2:97481200-97483000	Active TSS	Left Ventricle	heart
20	chr2:97481200-97483000	Active TSS	Lung	lung
21	chr2:97481200-97483000	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr2:97481200-97483000	Active TSS	Thymus	Thymus
23	chr2:97481200-97483000	Active TSS	NHDF-Ad	bronchial
24	chr2:97481200-97483200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:97481200-97483200	Active TSS	Aorta	Aorta
26	chr2:97481200-97483200	Active TSS	Colon Smooth Muscle	Colon
27	chr2:97481200-97483200	Active TSS	Small Intestine	intestine
28	chr2:97481200-97483200	Active TSS	A549	lung
29	chr2:97481200-97483400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:97481200-97483400	Active TSS	Hela-S3	cervix
31	chr2:97481200-97483600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr2:97481200-97484000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr2:97481400-97483000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr2:97481400-97483000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:97481400-97483000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:97481400-97483000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:97481400-97483000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:97481400-97483000	Active TSS	Primary T cells from cord blood	blood
39	chr2:97481400-97483000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:97481400-97483000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:97481400-97483000	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr2:97481400-97483000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:97481400-97483000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr2:97481400-97483000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:97481400-97483000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr2:97481400-97483000	Active TSS	Brain Anterior Caudate	brain
47	chr2:97481400-97483000	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:97481400-97483000	Active TSS	Brain Hippocampus Middle	brain
49	chr2:97481400-97483000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:97481400-97483000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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