Variant report

Variant	rs11227778
Chromosome Location	chr11:67122602-67122603
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	chr11:67120272-67122666	PANC-1	pancreas:	n/a	n/a
2	SP1	chr11:67120157-67122773	A549	lung:	n/a	chr11:67121108-67121117 chr11:67120700-67120712 chr11:67121152-67121162 chr11:67121106-67121118 chr11:67121106-67121117 chr11:67121049-67121058 chr11:67121151-67121163 chr11:67120309-67120318 chr11:67121641-67121650 chr11:67120590-67120604 chr11:67121108-67121117 chr11:67121152-67121162 chr11:67121201-67121210 chr11:67121151-67121163 chr11:67120309-67120319 chr11:67121083-67121104 chr11:67121240-67121261 chr11:67121181-67121195 chr11:67120439-67120448 chr11:67121200-67121209 chr11:67120300-67120313 chr11:67121148-67121162 chr11:67121152-67121161 chr11:67121153-67121162 chr11:67121412-67121421 chr11:67121107-67121116 chr11:67121153-67121162 chr11:67121106-67121118 chr11:67121048-67121058
3	SIN3AK20	chr11:67121470-67122802	A549	lung:	n/a	n/a
4	SIN3AK20	chr11:67121783-67122661	A549	lung:	n/a	n/a
5	TCF12	chr11:67120040-67123036	A549	lung:	n/a	chr11:67120092-67120102
6	POLR2A	chr11:67121898-67123602	A549	lung:	n/a	n/a
7	MYC	chr11:67121687-67122647	K562	blood:	n/a	chr11:67121821-67121831
8	ELF1	chr11:67121870-67123047	A549	lung:	n/a	n/a
9	ETS1	chr11:67121727-67122635	A549	lung:	n/a	chr11:67122214-67122228 chr11:67122216-67122227
10	POLR2A	chr11:67120476-67122740	A549	lung:	n/a	n/a
11	NR2F2	chr11:67120755-67122650	K562	blood:	n/a	chr11:67122152-67122167
12	SRF	chr11:67121985-67122618	ECC-1	luminal epithelium:	n/a	chr11:67122205-67122215
13	JUND	chr11:67121843-67122916	A549	lung:	n/a	chr11:67122186-67122194 chr11:67122184-67122195 chr11:67122184-67122196
14	POLR2A	chr11:67119963-67123806	U87	brain:	n/a	n/a
15	MYBL2	chr11:67121645-67122633	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:67121800-67122604	Hela-S3	cervix:	n/a	n/a
17	SMARCC1	chr11:67121928-67122655	Hela-S3	cervix:	n/a	chr11:67122186-67122195
18	EGR1	chr11:67121828-67122674	HCT-116	colon:	n/a	n/a
19	POLR2A	chr11:67119940-67122811	IMR90	lung:	n/a	n/a
20	SRF	chr11:67121754-67122814	HCT-116	colon:	n/a	chr11:67122205-67122215
21	POLR2A	chr11:67121823-67123305	K562	blood:	n/a	n/a
22	POLR2A	chr11:67119871-67126178	U87	brain:	n/a	n/a
23	MAZ	chr11:67119903-67123746	IMR90	lung:	n/a	n/a
24	POLR2A	chr11:67119865-67126303	U87	brain:	n/a	n/a
25	RCOR1	chr11:67121955-67122608	HepG2	liver:	n/a	n/a
26	MAX	chr11:67121702-67122615	A549	lung:	n/a	chr11:67121821-67121831
27	POLR2A	chr11:67120797-67122684	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:67119939-67122774	HUVEC	blood vessel:	n/a	n/a
29	BCL3	chr11:67120251-67123004	A549	lung:	n/a	chr11:67121201-67121210 chr11:67121178-67121191 chr11:67120701-67120710 chr11:67121302-67121311 chr11:67120974-67120987
30	FOSL2	chr11:67120558-67122720	A549	lung:	n/a	chr11:67121106-67121115 chr11:67122186-67122194 chr11:67122184-67122196 chr11:67121414-67121423
31	JUN	chr11:67120234-67123064	K562	blood:	n/a	chr11:67121106-67121115 chr11:67122186-67122194 chr11:67122184-67122196 chr11:67121414-67121423
32	POLR2A	chr11:67120027-67123806	U87	brain:	n/a	n/a
33	MAX	chr11:67120023-67123657	A549	lung:	n/a	chr11:67121821-67121831
34	FOSL1	chr11:67121832-67122661	HCT-116	colon:	n/a	chr11:67122186-67122194 chr11:67122184-67122196
35	POLR2A	chr11:67119958-67122636	HUVEC	blood vessel:	n/a	n/a
36	SP1	chr11:67121800-67122904	HCT-116	colon:	n/a	n/a
37	SIN3AK20	chr11:67120186-67122641	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:67119937-67123671	HCT-116	colon:	n/a	n/a
39	GATA3	chr11:67120078-67122829	A549	lung:	n/a	chr11:67122286-67122299
40	POLR2A	chr11:67121891-67122632	A549	lung:	n/a	n/a
41	POLR2A	chr11:67122139-67122606	A549	lung:	n/a	n/a
42	POLR2A	chr11:67121856-67122695	ProgFib	skin:	n/a	n/a
43	SRF	chr11:67122055-67122602	ECC-1	luminal epithelium:	n/a	chr11:67122205-67122215
44	POLR2A	chr11:67120468-67122604	PANC-1	pancreas:	n/a	n/a
45	MAX	chr11:67121729-67122793	A549	lung:	n/a	chr11:67121821-67121831
46	POLR2A	chr11:67121832-67122652	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr11:67122026-67122627	Hela-S3	cervix:	n/a	n/a
48	SMARCC2	chr11:67121961-67123069	Hela-S3	cervix:	n/a	chr11:67122186-67122195
49	EP300	chr11:67121800-67123361	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr11:67120459-67123733	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
2	chr11:67119569..67122629-chr11:67231645..67234377,4	MCF-7	breast:
3	chr11:67112769..67115040-chr11:67121657..67123708,3	K562	blood:
4	chr11:67119765..67126816-chr11:67129168..67134805,10	K562	blood:
5	chr11:67069948..67073118-chr11:67121673..67124639,3	MCF-7	breast:
6	chr11:67121023..67122771-chr11:67229925..67232799,2	K562	blood:
7	chr11:67118066..67122624-chr11:67272137..67276691,11	MCF-7	breast:
8	chr11:67054960..67058476-chr11:67120507..67123269,5	MCF-7	breast:
9	chr11:67121864..67124508-chr11:67250272..67251792,2	K562	blood:
10	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
11	chr11:67040558..67045868-chr11:67119770..67124610,5	K562	blood:
12	chr11:67035184..67037391-chr11:67122258..67124075,2	MCF-7	breast:
13	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
14	chr11:67121181..67122742-chr11:67122996..67124944,2	K562	blood:
15	chr11:67116454..67122701-chr11:67156914..67162562,7	K562	blood:
16	chr11:67120932..67122910-chr2:122287266..122290236,2	MCF-7	breast:
17	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD9A-4	chr11:67121054-67126866	NONHSAT022409

Variant related genes	Relation type
POLD4	TF binding region
ENSG00000172613	Chromatin interaction
ENSG00000201684	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000265451	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000264229	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12294502	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription 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	88 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS 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 target site	85 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67120800-67124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67121000-67126000	Enhancers	Spleen	Spleen
3	chr11:67121200-67122800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr11:67121200-67122800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:67121200-67123000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr11:67121200-67125000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:67121200-67125000	Enhancers	Lung	lung
8	chr11:67121200-67125000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:67121400-67122800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:67121400-67122800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:67121400-67122800	Flanking Active TSS	Osteobl	bone
12	chr11:67121400-67123000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr11:67121400-67123400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:67121400-67125400	Flanking Active TSS	Hela-S3	cervix
15	chr11:67121600-67122800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:67121600-67122800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:67121600-67122800	Enhancers	Fetal Lung	lung
18	chr11:67121600-67122800	Flanking Active TSS	K562	blood
19	chr11:67121600-67123000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:67121600-67123000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr11:67121600-67123000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:67121600-67123000	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr11:67121600-67123400	Enhancers	Brain Substantia Nigra	brain
24	chr11:67121600-67123400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:67121600-67124000	Enhancers	Fetal Thymus	thymus
26	chr11:67121600-67124400	Flanking Active TSS	HepG2	liver
27	chr11:67121600-67125000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:67121600-67125000	Enhancers	Gastric	stomach
29	chr11:67121600-67125200	Flanking Active TSS	A549	lung
30	chr11:67121600-67125800	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:67121600-67126200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:67121600-67126400	Enhancers	Placenta	Placenta
33	chr11:67121600-67132600	Weak transcription	Fetal Brain Female	brain
34	chr11:67121800-67122800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:67121800-67122800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:67121800-67122800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr11:67121800-67123000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:67121800-67123000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:67121800-67123200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:67121800-67123400	Enhancers	Brain Anterior Caudate	brain
41	chr11:67121800-67123600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:67121800-67123800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:67121800-67124200	Enhancers	Primary B cells from cord blood	blood
44	chr11:67121800-67124400	Enhancers	Esophagus	oesophagus
45	chr11:67121800-67124600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:67121800-67124600	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:67121800-67125000	Enhancers	Left Ventricle	heart
48	chr11:67121800-67125000	Enhancers	Ovary	ovary
49	chr11:67121800-67125000	Enhancers	Pancreas	Pancrea
50	chr11:67121800-67125400	Enhancers	Primary T helper cells PMA-I stimulated	--

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