Variant report

Variant	rs41291149
Chromosome Location	chr2:86426566-86426567
allele	A/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	POLR2A	chr2:86425990-86427055	PFSK-1	brain:	n/a	n/a
2	TAF1	chr2:86426385-86426836	PFSK-1	brain:	n/a	n/a
3	MYC	chr2:86426473-86426780	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:86426359-86426905	K562	blood:	n/a	n/a
5	SIN3AK20	chr2:86426392-86426969	HCT-116	colon:	n/a	n/a
6	BCL3	chr2:86426305-86426969	A549	lung:	n/a	n/a
7	SP1	chr2:86426297-86427019	HCT-116	colon:	n/a	chr2:86426532-86426546 chr2:86426921-86426935 chr2:86426796-86426805
8	REST	chr2:86426502-86426752	GM12878	blood:	n/a	n/a
9	NFATC1	chr2:86426308-86427120	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:86426150-86426979	SK-N-MC	brain:	n/a	n/a
11	HDAC2	chr2:86426393-86426850	HepG2	liver:	n/a	chr2:86426514-86426528
12	REST	chr2:86426446-86426807	SK-N-SH	brain:	n/a	n/a
13	CBX3	chr2:86426234-86427079	HCT-116	colon:	n/a	n/a
14	MAX	chr2:86426473-86426997	A549	lung:	n/a	n/a
15	YY1	chr2:86426402-86426826	HCT-116	colon:	n/a	chr2:86426609-86426621
16	CBX3	chr2:86426147-86426844	K562	blood:	n/a	n/a
17	MYC	chr2:86426398-86427178	NB4	blood:	n/a	n/a
18	BCLAF1	chr2:86426379-86426871	GM12878	blood:	n/a	n/a
19	MYC	chr2:86426542-86426693	K562	blood:	n/a	n/a
20	POLR2A	chr2:86426027-86427133	PANC-1	pancreas:	n/a	n/a
21	HEY1	chr2:86426328-86426870	K562	blood:	n/a	n/a
22	TAF7	chr2:86426470-86426723	K562	blood:	n/a	n/a
23	MAFK	chr2:86426331-86426763	K562	blood:	n/a	n/a
24	SIN3AK20	chr2:86426410-86426923	HepG2	liver:	n/a	n/a
25	MXI1	chr2:86426320-86427274	IMR90	lung:	n/a	n/a
26	TAF1	chr2:86426383-86426768	SK-N-SH	brain:	n/a	n/a
27	YY1	chr2:86426391-86427206	GM12891	blood:	n/a	chr2:86426609-86426621
28	POLR2A	chr2:86426327-86427008	GM12892	blood:	n/a	n/a
29	POLR2A	chr2:86426344-86427159	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:86426470-86426745	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr2:86426521-86426674	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr2:86426340-86426923	GM12891	blood:	n/a	n/a
33	TAF1	chr2:86426365-86426834	GM12891	blood:	n/a	n/a
34	YY1	chr2:86426373-86427121	ECC-1	luminal epithelium:	n/a	chr2:86426609-86426621
35	ZNF143	chr2:86426392-86426815	GM12878	blood:	n/a	n/a
36	BHLHE40	chr2:86426448-86427076	GM12878	blood:	n/a	n/a
37	TBP	chr2:86426352-86427299	Hela-S3	cervix:	n/a	n/a
38	REST	chr2:86426368-86426837	A549	lung:	n/a	n/a
39	HEY1	chr2:86426382-86426833	HepG2	liver:	n/a	n/a
40	POLR2A	chr2:86426318-86426961	K562	blood:	n/a	n/a
41	POLR2A	chr2:86426289-86426911	GM12892	blood:	n/a	n/a
42	YY1	chr2:86426414-86426867	H1-hESC	embryonic stem cell:	n/a	chr2:86426609-86426621
43	YY1	chr2:86426268-86427148	SK-N-SH	brain:	n/a	chr2:86426609-86426621
44	GABPA	chr2:86426354-86426837	SK-N-SH	brain:	n/a	n/a
45	CHD2	chr2:86426426-86427021	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr2:86426378-86426829	Hela-S3	cervix:	n/a	n/a
47	ELF1	chr2:86426347-86426966	HepG2	liver:	n/a	chr2:86426517-86426528
48	MAFK	chr2:86426313-86426711	HepG2	liver:	n/a	n/a
49	ATF3	chr2:86426320-86426873	A549	lung:	n/a	n/a
50	PAX5	chr2:86426388-86426749	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:62223427..62224126-chr2:86426498..86427114,2	Hela-S3	cervix:
2	chr12:120729286..120729997-chr2:86426255..86427031,2	MCF-7	breast:
3	chr2:86420213..86424453-chr2:86424933..86430971,16	MCF-7	breast:
4	chr19:10443860..10444839-chr2:86426477..86427077,2	NB4	blood:
5	chr2:86331612..86333310-chr2:86425160..86426981,2	MCF-7	breast:

Variant related genes	Relation type
MRPL35	TF binding region
IMMT	TF binding region
ENSG00000273080	Chromatin interaction
ENSG00000265420	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000161847	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000068654	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000266402	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3770063	1.00[AMR][1000 genomes]
rs58002521	1.00[AMR][1000 genomes]
rs58678485	1.00[AMR][1000 genomes]
rs59185549	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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	36 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	chr2:86424200-86426600	Weak transcription	Fetal Heart	heart
2	chr2:86425600-86427200	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr2:86425600-86427200	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr2:86425800-86427000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:86425800-86427200	Active TSS	Brain Hippocampus Middle	brain
6	chr2:86425800-86427200	Active TSS	Colon Smooth Muscle	Colon
7	chr2:86425800-86427200	Active TSS	Fetal Brain Female	brain
8	chr2:86425800-86427400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:86425800-86427400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:86425800-86427400	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:86425800-86427800	Active TSS	NH-A	brain
12	chr2:86425800-86428200	Active TSS	A549	lung
13	chr2:86425800-86429800	Active TSS	GM12878-XiMat	blood
14	chr2:86426000-86426600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr2:86426000-86426600	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr2:86426000-86426600	Active TSS	HepG2	liver
17	chr2:86426000-86426800	Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr2:86426000-86426800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr2:86426000-86427000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:86426000-86427000	Active TSS	Primary T cells from cord blood	blood
21	chr2:86426000-86427000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:86426000-86427000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr2:86426000-86427000	Active TSS	Colonic Mucosa	Colon
24	chr2:86426000-86427000	Active TSS	Duodenum Mucosa	Duodenum
25	chr2:86426000-86427000	Active TSS	Fetal Lung	lung
26	chr2:86426000-86427000	Active TSS	Rectal Smooth Muscle	rectum
27	chr2:86426000-86427200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:86426000-86427200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:86426000-86427200	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:86426000-86427200	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:86426000-86427200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:86426000-86427200	Active TSS	Brain Cingulate Gyrus	brain
33	chr2:86426000-86427200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:86426000-86427200	Active TSS	Pancreas	Pancrea
35	chr2:86426000-86427200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:86426000-86427200	Active TSS	Dnd41	blood
37	chr2:86426000-86427400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:86426000-86427400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:86426000-86427400	Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:86426000-86427400	Active TSS	Hela-S3	cervix
41	chr2:86426000-86427600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:86426000-86427600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:86426000-86427600	Active TSS	Fetal Intestine Large	intestine
44	chr2:86426000-86427600	Active TSS	Right Atrium	heart
45	chr2:86426000-86427600	Active TSS	Thymus	Thymus
46	chr2:86426000-86427600	Active TSS	HSMM	muscle
47	chr2:86426000-86427800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr2:86426000-86427800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:86426000-86427800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:86426000-86427800	Active TSS	HUES6 Cell Line	embryonic stem cell

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