Variant report

Variant	rs190310367
Chromosome Location	chr11:67174781-67174782
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	CTCF	chr11:67174665-67174808	MCF-7	breast:	n/a	chr11:67174750-67174766
2	CTCF	chr11:67174624-67174880	HepG2	liver:	n/a	chr11:67174750-67174766
3	CTCF	chr11:67174720-67174870	HepG2	liver:	n/a	chr11:67174750-67174766
4	CTCF	chr11:67174700-67174850	HRPEpiC	eye:	n/a	chr11:67174750-67174766
5	RAD21	chr11:67174715-67174888	A549	lung:	n/a	n/a
6	CTCF	chr11:67174716-67174795	MCF-7	breast:	n/a	chr11:67174750-67174766
7	CTCF	chr11:67174679-67174802	Hela-S3	cervix:	n/a	chr11:67174750-67174766
8	MAX	chr11:67174515-67174853	K562	blood:	n/a	chr11:67174722-67174732
9	POLR2A	chr11:67174602-67175029	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:67174675-67174812	Fibrobl	skin:	n/a	chr11:67174750-67174766
11	CTCF	chr11:67174780-67174930	HCFaa	heart:	n/a	n/a
12	CTCF	chr11:67174700-67174850	GM12871	blood:	n/a	chr11:67174750-67174766
13	CTCF	chr11:67174640-67174790	AG04449	skin:	n/a	chr11:67174750-67174766
14	CTCF	chr11:67174653-67174871	HepG2	liver:	n/a	chr11:67174750-67174766
15	CTCF	chr11:67174660-67174810	HBMEC	blood vessel:	n/a	chr11:67174750-67174766
16	CTCF	chr11:67174717-67174798	A549	lung:	n/a	chr11:67174750-67174766
17	CTCF	chr11:67174740-67174890	BE2_C	brain:	n/a	chr11:67174750-67174766
18	CTCF	chr11:67174680-67174830	HRPEpiC	eye:	n/a	chr11:67174750-67174766
19	CTCF	chr11:67174740-67174890	HPAF	blood vessel:	n/a	chr11:67174750-67174766
20	CTCF	chr11:67174572-67174934	GM12878	blood:	n/a	chr11:67174750-67174766
21	CTCF	chr11:67174679-67174839	Spleen_OC	spleen:	n/a	chr11:67174750-67174766
22	CTCF	chr11:67174704-67174854	Medullo	brain:	n/a	chr11:67174750-67174766
23	CTCF	chr11:67174675-67174848	K562	blood:	n/a	chr11:67174750-67174766
24	MYC	chr11:67174616-67174815	K562	blood:	n/a	chr11:67174722-67174732
25	SMC3	chr11:67174759-67174789	K562	blood:	n/a	n/a
26	CTCF	chr11:67174720-67174870	BE2_C	brain:	n/a	chr11:67174750-67174766
27	CTCF	chr11:67174692-67174825	HepG2	liver:	n/a	chr11:67174750-67174766
28	CTCF	chr11:67174680-67174823	GM12878	blood:	n/a	chr11:67174750-67174766
29	CTCF	chr11:67174619-67174884	GM12892	blood:	n/a	chr11:67174750-67174766
30	CTCF	chr11:67174680-67174830	SAEC	small airway:	n/a	chr11:67174750-67174766
31	CTCF	chr11:67174656-67174847	NHEK	skin:	n/a	chr11:67174750-67174766
32	CTCF	chr11:67174640-67174790	MCF-7	breast:	n/a	chr11:67174750-67174766
33	SMC3	chr11:67174673-67174879	GM12878	blood:	n/a	n/a
34	CTCF	chr11:67174640-67174790	WERI-Rb-1	eye:	n/a	chr11:67174750-67174766
35	CTCF	chr11:67174740-67174890	HCPEpiC	choroid plexus:	n/a	chr11:67174750-67174766
36	ZNF143	chr11:67174673-67174924	GM12878	blood:	n/a	n/a
37	CTCF	chr11:67174701-67174781	Gliobla	brain:	n/a	chr11:67174750-67174766
38	CTCF	chr11:67174660-67174810	BJ	skin:	n/a	chr11:67174750-67174766
39	CTCF	chr11:67174642-67174864	GM19239	blood:	n/a	chr11:67174750-67174766
40	POLR2A	chr11:67174657-67174805	MCF-7	breast:	n/a	n/a
41	MAZ	chr11:67174727-67174834	GM12878	blood:	n/a	n/a
42	RAD21	chr11:67174682-67174884	K562	blood:	n/a	n/a
43	CTCF	chr11:67174645-67174863	GM19238	blood:	n/a	chr11:67174750-67174766
44	CTCF	chr11:67174660-67174810	GM12865	blood:	n/a	chr11:67174750-67174766
45	CTCF	chr11:67174681-67174821	GM10248	blood:	n/a	chr11:67174750-67174766
46	MAX	chr11:67174687-67174819	NB4	blood:	n/a	chr11:67174722-67174732
47	CTCF	chr11:67174660-67174810	AG10803	skin:	n/a	chr11:67174750-67174766
48	CTCF	chr11:67174640-67174790	GM12878	blood:	n/a	chr11:67174750-67174766
49	RAD21	chr11:67174605-67174954	HepG2	liver:	n/a	n/a
50	CTCF	chr11:67174631-67174791	GM20000	blood:	n/a	chr11:67174750-67174766

No.	Distal block	Cell Line	Cell type
1	chr11:67172672..67175218-chr11:67274575..67276166,2	K562	blood:
2	chr11:67172860..67176369-chr11:67201428..67204494,3	K562	blood:
3	chr11:67174480..67177168-chr11:67249396..67252040,3	MCF-7	breast:
4	chr11:67174684..67176198-chr11:67271900..67273931,2	K562	blood:
5	chr11:67174351..67176822-chr11:67262418..67264018,2	K562	blood:

Variant related genes	Relation type
TBC1D10C	TF binding region
PPP1CA	TF binding region
ENSG00000167797	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	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
22	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67169800-67175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:67169800-67175000	Weak transcription	Fetal Brain Male	brain
3	chr11:67169800-67176800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:67169800-67177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67169800-67178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:67170000-67177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:67170000-67177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
9	chr11:67170200-67175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:67170200-67176600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:67171000-67176800	Weak transcription	Lung	lung
12	chr11:67171000-67177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:67171400-67176600	Weak transcription	Left Ventricle	heart
14	chr11:67171400-67177400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:67171600-67176000	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr11:67171600-67177200	Weak transcription	Pancreas	Pancrea
17	chr11:67171600-67177800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
18	chr11:67172000-67174800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:67172200-67177200	Weak transcription	Gastric	stomach
20	chr11:67172400-67175800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:67172400-67176800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:67172400-67177800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
24	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:67172400-67178000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr11:67172600-67174800	Weak transcription	HSMM	muscle
27	chr11:67172600-67175600	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:67172600-67177200	Weak transcription	Hela-S3	cervix
29	chr11:67172600-67177600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:67172600-67177800	Weak transcription	K562	blood
31	chr11:67172600-67178400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:67172800-67175400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:67172800-67176400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
34	chr11:67172800-67176800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:67172800-67177400	Genic enhancers	Spleen	Spleen
36	chr11:67173000-67174800	Weak transcription	Brain Germinal Matrix	brain
37	chr11:67173000-67175000	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:67173000-67176000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
39	chr11:67173200-67175000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
40	chr11:67173200-67175200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:67173400-67177200	Weak transcription	Fetal Intestine Small	intestine
42	chr11:67173600-67175400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
43	chr11:67173600-67176000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
44	chr11:67173800-67175600	Transcr. at gene 5' and 3'	Thymus	Thymus
45	chr11:67173800-67175800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
46	chr11:67173800-67175800	Genic enhancers	Monocytes-CD14+_RO01746	blood
47	chr11:67173800-67176800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr11:67173800-67177800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:67173800-67177800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:67173800-67178400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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