Variant report

Variant	rs1925371
Chromosome Location	chr11:34381257-34381258
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	CTCF	chr11:34380713-34381330	Medullo	brain:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
2	RAD21	chr11:34380685-34381272	K562	blood:	n/a	chr11:34381200-34381219
3	CTCF	chr11:34380461-34381341	K562	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
4	CTCF	chr11:34380727-34381329	HUVEC	blood vessel:	n/a	chr11:34381202-34381220 chr11:34381197-34381218
5	CTCF	chr11:34380342-34381406	GM12878	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
6	CTCF	chr11:34380628-34381307	GM12878	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
7	CTCF	chr11:34380594-34381371	T-47D	breast:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
8	CTCF	chr11:34380531-34381402	A549	lung:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
9	CTCF	chr11:34380524-34381434	A549	lung:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
10	RAD21	chr11:34380463-34381483	MCF-7	breast:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
11	CTCF	chr11:34380841-34381310	LNCaP	prostate:	n/a	chr11:34381202-34381220 chr11:34381197-34381218
12	ARID3A	chr11:34380766-34381328	K562	blood:	n/a	n/a
13	CTCF	chr11:34380669-34381307	GM13977	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
14	FOXM1	chr11:34380655-34381269	GM12878	blood:	n/a	n/a
15	ZC3H11A	chr11:34380899-34381370	K562	blood:	n/a	n/a
16	CTCF	chr11:34381212-34381297	HepG2	liver:	n/a	n/a
17	MAFK	chr11:34380092-34381291	Hela-S3	cervix:	n/a	n/a
18	JUND	chr11:34380706-34381357	H1-hESC	embryonic stem cell:	n/a	chr11:34381227-34381236
19	CTCF	chr11:34380799-34381331	LNCaP	prostate:	n/a	chr11:34381202-34381220 chr11:34381197-34381218
20	CTCF	chr11:34380647-34381324	Pancreas_OC	pancreas:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
21	RAD21	chr11:34380432-34381413	H1-hESC	embryonic stem cell:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
22	CTCF	chr11:34380627-34381373	Spleen_OC	spleen:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
23	TCF12	chr11:34379084-34381370	A549	lung:	n/a	n/a
24	RAD21	chr11:34380469-34381380	SK-N-SH_RA	brain:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
25	SMC3	chr11:34380074-34381362	HepG2	liver:	n/a	n/a
26	E2F4	chr11:34380742-34381291	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr11:34379074-34381631	HCT-116	colon:	n/a	chr11:34379924-34379936 chr11:34380425-34380437 chr11:34379311-34379325 chr11:34381200-34381219 chr11:34379138-34379151 chr11:34380673-34380685
28	CTCF	chr11:34380778-34381330	ECC-1	luminal epithelium:	n/a	chr11:34381202-34381220 chr11:34381197-34381218
29	RAD21	chr11:34379150-34381554	HCT-116	colon:	n/a	chr11:34379924-34379936 chr11:34380425-34380437 chr11:34379311-34379325 chr11:34381200-34381219 chr11:34380673-34380685
30	CHD1	chr11:34380232-34381277	H1-hESC	embryonic stem cell:	n/a	n/a
31	HCFC1	chr11:34380771-34381343	K562	blood:	n/a	n/a
32	RAD21	chr11:34380451-34381432	MCF-7	breast:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
33	CTCF	chr11:34380851-34381350	SK-N-SH_RA	brain:	n/a	chr11:34381202-34381220 chr11:34381197-34381218
34	FOSL2	chr11:34380615-34381371	A549	lung:	n/a	chr11:34381227-34381236
35	RAD21	chr11:34380428-34381465	ECC-1	luminal epithelium:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
36	CTCF	chr11:34381191-34381298	MCF-7	breast:	n/a	chr11:34381202-34381220 chr11:34381197-34381218
37	CTCF	chr11:34380550-34381352	H1-hESC	embryonic stem cell:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
38	CHD2	chr11:34378353-34381317	Hela-S3	cervix:	n/a	n/a
39	SMC3	chr11:34378437-34381508	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:34380510-34381403	HepG2	liver:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
41	CTCF	chr11:34380570-34381344	T-47D	breast:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
42	TBL1XR1	chr11:34380629-34381271	GM12878	blood:	n/a	n/a
43	MXI1	chr11:34377728-34381526	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr11:34380537-34381661	IMR90	lung:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
45	CTCF	chr11:34381198-34381295	Gliobla	brain:	n/a	chr11:34381202-34381220
46	TEAD4	chr11:34380525-34381288	HepG2	liver:	n/a	n/a
47	CTCF	chr11:34380551-34381385	K562	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
48	RAD21	chr11:34380350-34381357	GM12878	blood:	n/a	chr11:34380425-34380437 chr11:34381200-34381219 chr11:34380673-34380685
49	GTF2F1	chr11:34380584-34381375	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr11:34380884-34381334	GM10248	blood:	n/a	chr11:34381202-34381220 chr11:34381197-34381218

No.	Distal block	Cell Line	Cell type
1	chr11:34171215..34172003-chr11:34380711..34381705,3	MCF-7	breast:
2	chr11:34380939..34381848-chr11:34514131..34515008,2	MCF-7	breast:
3	chr11:34368701..34370901-chr11:34379752..34381357,2	K562	blood:
4	chr11:34195400..34196504-chr11:34379832..34381736,16	MCF-7	breast:
5	chr11:33883902..33886666-chr11:34381221..34383098,2	MCF-7	breast:
6	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:
7	chr11:34187084..34188044-chr11:34380825..34381630,2	MCF-7	breast:
8	chr11:34018304..34019124-chr11:34380429..34381489,5	MCF-7	breast:
9	chr11:34171073..34172022-chr11:34380697..34381569,3	MCF-7	breast:
10	chr11:34186780..34187813-chr11:34380499..34381345,5	MCF-7	breast:
11	chr11:34018651..34019172-chr11:34380715..34381485,2	K562	blood:
12	chr11:34194851..34196566-chr11:34380231..34381621,20	MCF-7	breast:
13	chr11:33879110..33879929-chr11:34380779..34381404,2	MCF-7	breast:
14	chr11:34125543..34130810-chr11:34377372..34382966,13	MCF-7	breast:
15	chr11:34170082..34170878-chr11:34380526..34381351,2	K562	blood:
16	chr11:34127120..34127834-chr11:34380752..34381319,3	MCF-7	breast:
17	chr11:33879158..33879864-chr11:34380802..34381795,2	MCF-7	breast:
18	chr11:34380514..34381443-chr11:34513937..34515065,4	K562	blood:

Variant related genes	Relation type
ABTB2	TF binding region
ENSG00000135387	Chromatin interaction
ENSG00000135372	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10742313	0.80[EUR][1000 genomes]
rs10742314	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10768059	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10768060	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768061	0.88[EUR][1000 genomes]
rs10768062	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768063	0.88[EUR][1000 genomes]
rs10768064	0.88[EUR][1000 genomes]
rs10768065	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768066	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768067	0.88[EUR][1000 genomes]
rs10768068	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768069	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836190	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836191	0.88[EUR][1000 genomes]
rs10836194	0.80[EUR][1000 genomes]
rs10836195	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836196	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836197	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032621	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11032624	0.88[EUR][1000 genomes]
rs11032625	0.88[EUR][1000 genomes]
rs11032627	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032628	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032631	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032632	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032634	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032635	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032642	0.92[EUR][1000 genomes]
rs11032650	0.83[EUR][1000 genomes]
rs12296013	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12787642	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1810506	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1810507	0.88[EUR][1000 genomes]
rs1883736	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1925368	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1925372	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1925374	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1977109	0.80[EUR][1000 genomes]
rs2001176	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2092485	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3740795	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740796	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817990	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3981191	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3981192	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4140544	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4993520	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6484710	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484711	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110380	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7124239	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs742634	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927418	0.87[EUR][1000 genomes]
rs7927718	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs910088	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9651597	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34379200-34381400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:34379800-34381400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:34379800-34381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:34379800-34381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:34380600-34381400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:34380800-34381400	Active TSS	HepG2	liver
7	chr11:34380800-34385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:34380800-34385600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:34381000-34381400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:34381000-34381400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:34381000-34381400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:34381000-34385000	Weak transcription	Fetal Thymus	thymus
13	chr11:34381000-34385600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:34381000-34392800	Weak transcription	Right Atrium	heart
15	chr11:34381200-34381400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:34381200-34381400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:34381200-34381400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:34381200-34381400	Enhancers	Brain Anterior Caudate	brain
19	chr11:34381200-34381400	Enhancers	Brain Substantia Nigra	brain
20	chr11:34381200-34381400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:34381200-34381400	Enhancers	Dnd41	blood
22	chr11:34381200-34381400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:34381200-34381400	Active TSS	NHEK	skin
24	chr11:34381200-34382000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:34381200-34383000	Enhancers	Liver	Liver
26	chr11:34381200-34384800	Weak transcription	Stomach Mucosa	stomach
27	chr11:34381200-34385400	Weak transcription	Thymus	Thymus
28	chr11:34381200-34385600	Weak transcription	Primary T cells from cord blood	blood
29	chr11:34381200-34385600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:34381200-34385600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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