Variant report

Variant	rs55987642
Chromosome Location	chr11:67200812-67200813
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	chr11:67198736-67211579	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:67198696-67204329	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67200617-67205780	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:67200521-67212166	K562	blood:	n/a	n/a
5	POLR2A	chr11:67199088-67207292	GM18505	blood:	n/a	n/a
6	POLR2A	chr11:67198721-67204334	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67199177-67206380	GM19099	blood:	n/a	n/a
8	POLR2A	chr11:67198947-67207334	HL-60	blood:	n/a	n/a
9	POLR2A	chr11:67199446-67204664	GM12891	blood:	n/a	n/a
10	ELF1	chr11:67200755-67202909	GM12878	blood:	n/a	chr11:67201008-67201020 chr11:67201774-67201786
11	EBF1	chr11:67200705-67200970	GM12878	blood:	n/a	n/a
12	PML	chr11:67200370-67206421	GM12878	blood:	n/a	n/a
13	STAT5A	chr11:67200137-67206130	GM12878	blood:	n/a	chr11:67204620-67204631 chr11:67204709-67204716 chr11:67203878-67203890 chr11:67200355-67200367 chr11:67201441-67201453 chr11:67202211-67202219 chr11:67204675-67204687 chr11:67205486-67205498 chr11:67201551-67201563 chr11:67204583-67204591 chr11:67203902-67203913
14	NFIC	chr11:67200632-67201475	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:67199010-67205520	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:67198625-67205482	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:67199678-67205474	GM18526	blood:	n/a	n/a
18	POU2F2	chr11:67200741-67202496	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:67199974-67206444	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:67198635-67206407	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:67200187-67206414	GM15510	blood:	n/a	n/a
22	MTA3	chr11:67198952-67207449	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:67198622-67210790	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:67198810-67206466	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:67199833-67207816	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:67198820-67206485	GM19193	blood:	n/a	n/a
27	POLR2A	chr11:67198910-67207363	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:67197957-67210886	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:67200191-67205425	GM10847	blood:	n/a	n/a
30	MTA3	chr11:67200626-67203499	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:67198638-67208537	GM12892	blood:	n/a	n/a
32	POU2F2	chr11:67199684-67203080	GM12891	blood:	n/a	chr11:67200378-67200390 chr11:67200330-67200342
33	POLR2A	chr11:67199970-67202512	NB4	blood:	n/a	n/a
34	POLR2A	chr11:67199948-67206434	Raji	blood:	n/a	n/a
35	POLR2A	chr11:67198639-67205514	GM12891	blood:	n/a	n/a
36	POLR2A	chr11:67199935-67200857	K562	blood:	n/a	n/a
37	BCL3	chr11:67200045-67201543	GM12878	blood:	n/a	chr11:67201165-67201174
38	POLR2A	chr11:67200689-67210558	K562	blood:	n/a	n/a
39	POLR2A	chr11:67199110-67207194	GM12891	blood:	n/a	n/a
40	POLR2A	chr11:67198642-67211413	K562	blood:	n/a	n/a
41	POLR2A	chr11:67200812-67201764	K562	blood:	n/a	n/a
42	POLR2A	chr11:67200004-67206472	GM18951	blood:	n/a	n/a
43	ELF1	chr11:67200398-67202370	GM12878	blood:	n/a	chr11:67201008-67201020 chr11:67201774-67201786
44	NFATC1	chr11:67199555-67203193	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:67197559-67209128	GM12878	blood:	n/a	n/a
46	NFATC1	chr11:67199634-67205518	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67200665..67201603-chr19:13056405..13056976,2	NB4	blood:
2	chr11:67200052..67201775-chr11:67236334..67238070,2	K562	blood:

Variant related genes	Relation type
RPS6KB2	TF binding region
ENSG00000179262	Chromatin interaction
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12791976	1.00[AFR][1000 genomes]
rs12803635	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803820	1.00[AFR][1000 genomes]
rs2286621	1.00[AFR][1000 genomes]
rs34281447	1.00[AFR][1000 genomes]
rs34614891	1.00[AFR][1000 genomes]
rs35590263	1.00[AFR][1000 genomes]
rs3741180	1.00[AFR][1000 genomes]
rs71457767	1.00[AFR][1000 genomes]
rs71457768	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers 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	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer 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	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
18	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
22	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
23	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67196800-67210200	Weak transcription	Fetal Kidney	kidney
2	chr11:67197000-67201000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:67197000-67201400	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr11:67197000-67202400	Genic enhancers	Fetal Thymus	thymus
5	chr11:67197000-67202800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:67197200-67201000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:67197200-67201200	Strong transcription	Fetal Lung	lung
8	chr11:67197200-67201400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr11:67197200-67201800	Weak transcription	Psoas Muscle	Psoas
10	chr11:67197200-67202000	Genic enhancers	Dnd41	blood
11	chr11:67197200-67202800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:67197200-67203000	Weak transcription	HSMM	muscle
13	chr11:67197200-67203400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:67197200-67203400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:67197200-67203600	Strong transcription	Fetal Stomach	stomach
16	chr11:67197200-67203600	Weak transcription	Small Intestine	intestine
17	chr11:67197200-67203800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:67197200-67203800	Weak transcription	NH-A	brain
19	chr11:67197200-67206200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr11:67197200-67206800	Weak transcription	Hela-S3	cervix
21	chr11:67197200-67206800	Weak transcription	NHDF-Ad	bronchial
22	chr11:67197200-67207000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:67197200-67207000	Weak transcription	Right Atrium	heart
24	chr11:67197200-67209400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:67197200-67209800	Weak transcription	Fetal Heart	heart
26	chr11:67197200-67210000	Strong transcription	Fetal Brain Female	brain
27	chr11:67197200-67210000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:67197400-67202200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:67197400-67206800	Strong transcription	Brain Hippocampus Middle	brain
30	chr11:67197400-67209400	Strong transcription	Fetal Intestine Large	intestine
31	chr11:67197600-67202000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:67197600-67202200	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:67197600-67203400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr11:67197600-67203600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:67197600-67203600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:67197600-67204400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:67197600-67204800	Strong transcription	Fetal Intestine Small	intestine
38	chr11:67197600-67204800	Strong transcription	Right Ventricle	heart
39	chr11:67197600-67208200	Strong transcription	Brain Germinal Matrix	brain
40	chr11:67197600-67209400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:67197800-67201600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:67197800-67203200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:67197800-67203200	Strong transcription	Ovary	ovary
44	chr11:67198000-67201800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:67198000-67203000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:67198000-67203200	Strong transcription	NHEK	skin
47	chr11:67198000-67205400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:67198200-67201000	Strong transcription	A549	lung
49	chr11:67198200-67202000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:67198200-67202400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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