Variant report

Variant	rs34228766
Chromosome Location	chr2:97483211-97483212
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	chr2:97481096-97483863	GM12878	blood:	n/a	n/a
2	ZNF263	chr2:97481138-97486512	HEK293-T-REx	kidney:	n/a	chr2:97486292-97486301 chr2:97484433-97484454
3	POLR2A	chr2:97481088-97483359	Hela-S3	cervix:	n/a	n/a
4	MAX	chr2:97481293-97483422	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
5	CREB1	chr2:97481057-97483477	HepG2	liver:	n/a	n/a
6	MYC	chr2:97481030-97483235	NB4	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
7	MXI1	chr2:97481062-97483293	HepG2	liver:	n/a	n/a
8	MAX	chr2:97480968-97483512	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
9	POLR2A	chr2:97481528-97483244	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:97483100-97483250	AG04449	skin:	n/a	n/a
11	MXI1	chr2:97481070-97483573	IMR90	lung:	n/a	n/a
12	SIN3A	chr2:97481117-97483408	H1-hESC	embryonic stem cell:	n/a	n/a
13	HCFC1	chr2:97480652-97483529	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr2:97483192-97483278	K562	blood:	n/a	n/a
15	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
16	MXI1	chr2:97480896-97483426	Hela-S3	cervix:	n/a	n/a
17	MAZ	chr2:97481119-97483308	Hela-S3	cervix:	n/a	chr2:97481901-97481911
18	POLR2A	chr2:97481063-97483472	Hela-S3	cervix:	n/a	n/a
19	SMARCB1	chr2:97481172-97483331	Hela-S3	cervix:	n/a	n/a
20	MAX	chr2:97480929-97483545	HepG2	liver:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
21	MXI1	chr2:97480568-97483974	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr2:97480952-97484103	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:97483191-97483374	Hela-S3	cervix:	n/a	n/a
24	MAX	chr2:97481128-97483640	HepG2	liver:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
25	MAX	chr2:97481072-97483296	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
26	POLR2A	chr2:97481071-97483252	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:97483084-97483238	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF2	chr2:97483157-97483362	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr2:97483160-97483310	A549	lung:	n/a	n/a
30	POLR2A	chr2:97481540-97483227	A549	lung:	n/a	n/a
31	MYC	chr2:97480972-97483303	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
32	POLR2A	chr2:97482826-97483301	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr2:97483041-97483238	ProgFib	skin:	n/a	n/a
34	MAX	chr2:97481329-97483376	ECC-1	luminal epithelium:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
35	MYC	chr2:97481720-97483213	MCF-7	breast:	n/a	chr2:97481901-97481911
36	POLR2A	chr2:97481500-97483308	K562	blood:	n/a	n/a
37	POLR2A	chr2:97481555-97483298	A549	lung:	n/a	n/a
38	MAX	chr2:97482829-97483304	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMC3	chr2:97483133-97483341	Hela-S3	cervix:	n/a	n/a
40	JUND	chr2:97483155-97483413	H1-hESC	embryonic stem cell:	n/a	n/a
41	UBTF	chr2:97480950-97483377	K562	blood:	n/a	n/a
42	POLR2A	chr2:97480972-97483270	Raji	blood:	n/a	n/a
43	MAX	chr2:97481000-97483343	Hela-S3	cervix:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
44	RCOR1	chr2:97483179-97483371	HepG2	liver:	n/a	n/a
45	MAX	chr2:97482771-97483457	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr2:97481119-97483477	MCF-7	breast:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
47	POLR2A	chr2:97481536-97483294	MCF-7	breast:	n/a	n/a
48	MAX	chr2:97482888-97483243	K562	blood:	n/a	n/a
49	TAF1	chr2:97481298-97483224	HepG2	liver:	n/a	n/a
50	HA-E2F1	chr2:97481128-97483341	MCF-7	breast:	n/a	chr2:97481751-97481760 chr2:97481958-97481967 chr2:97481364-97481376 chr2:97481896-97481905

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	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
7	chr2:97303859..97305572-chr2:97481972..97484956,2	K562	blood:
8	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
9	chr2:97426447..97426998-chr2:97482596..97483465,2	MCF-7	breast:
10	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
11	chr2:97482077..97484941-chr2:97522185..97524472,2	MCF-7	breast:
12	chr2:97302401..97304754-chr2:97481583..97484330,2	MCF-7	breast:
13	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
14	chr2:97481330..97485256-chr2:97521136..97525640,5	K562	blood:
15	chr17:57913918..57915795-chr2:97481404..97483312,2	MCF-7	breast:
16	chr2:97482548..97484049-chr5:176980916..176982734,2	MCF-7	breast:
17	chr2:97482924..97486110-chr2:97522270..97524804,3	MCF-7	breast:
18	chr2:97482549..97484070-chr5:176981046..176982847,2	MCF-7	breast:
19	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:
20	chr2:97481330..97483685-chr2:97521136..97525158,3	K562	blood:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10172803	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12616466	1.00[AMR][1000 genomes]
rs13402074	1.00[AMR][1000 genomes]
rs13408711	1.00[AMR][1000 genomes]
rs7597736	1.00[AMR][1000 genomes]

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	chr2:97481000-97483400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97481000-97484000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:97481200-97483400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:97481200-97483400	Active TSS	Hela-S3	cervix
5	chr2:97481200-97483600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:97481200-97484000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr2:97481400-97483600	Active TSS	HSMMtube	muscle
8	chr2:97482800-97483400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:97482800-97483400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:97482800-97483400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:97482800-97483400	Flanking Active TSS	Right Atrium	heart
12	chr2:97482800-97483400	Flanking Active TSS	Spleen	Spleen
13	chr2:97482800-97483400	Flanking Active TSS	NH-A	brain
14	chr2:97482800-97483400	Flanking Active TSS	Osteobl	bone
15	chr2:97482800-97483600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:97482800-97483600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:97482800-97483600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:97482800-97483600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:97482800-97483600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr2:97482800-97483600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:97482800-97483600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:97482800-97483600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:97482800-97483600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr2:97482800-97483600	Flanking Active TSS	Pancreas	Pancrea
25	chr2:97482800-97483600	Flanking Active TSS	HMEC	breast
26	chr2:97482800-97483600	Flanking Active TSS	K562	blood
27	chr2:97482800-97483800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:97482800-97483800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:97482800-97483800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr2:97482800-97483800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr2:97482800-97483800	Flanking Active TSS	Colonic Mucosa	Colon
32	chr2:97482800-97483800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:97482800-97483800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:97482800-97484000	Flanking Active TSS	Liver	Liver
35	chr2:97482800-97484000	Flanking Active TSS	Right Ventricle	heart
36	chr2:97482800-97484000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr2:97482800-97484400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr2:97482800-97484600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr2:97482800-97485200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:97482800-97485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:97483000-97483400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:97483000-97483400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:97483000-97483400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:97483000-97483400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr2:97483000-97483400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:97483000-97483400	Flanking Active TSS	Esophagus	oesophagus
47	chr2:97483000-97483400	Flanking Active TSS	Placenta	Placenta
48	chr2:97483000-97483400	Flanking Active TSS	Gastric	stomach
49	chr2:97483000-97483400	Flanking Active TSS	Left Ventricle	heart
50	chr2:97483000-97483400	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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