Variant report

Variant	rs1316281
Chromosome Location	chr11:120107113-120107114
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	chr11:120107045-120107983	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMC3	chr11:120105563-120107116	SK-N-SH	brain:	n/a	chr11:120105914-120105928
3	POLR2A	chr11:120107113-120108108	K562	blood:	n/a	n/a
4	PML	chr11:120107028-120107910	K562	blood:	n/a	n/a
5	TRIM28	chr11:120107085-120107949	K562	blood:	n/a	n/a
6	BCLAF1	chr11:120107103-120108121	K562	blood:	n/a	chr11:120107719-120107726
7	CEBPD	chr11:120107086-120108087	K562	blood:	n/a	n/a
8	POLR2A	chr11:120107079-120107972	SK-N-MC	brain:	n/a	n/a
9	TBP	chr11:120107099-120107853	K562	blood:	n/a	n/a
10	TEAD4	chr11:120107038-120107777	K562	blood:	n/a	n/a
11	POLR2A	chr11:120107083-120108106	K562	blood:	n/a	n/a
12	POLR2A	chr11:120107081-120107931	MCF-7	breast:	n/a	n/a
13	SP1	chr11:120107104-120107642	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:120107045-120108049	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr11:120107099-120108068	K562	blood:	n/a	n/a
16	POU2F2	chr11:120107100-120107933	GM12891	blood:	n/a	chr11:120107151-120107161 chr11:120107141-120107151 chr11:120107152-120107162 chr11:120107127-120107142 chr11:120107140-120107150 chr11:120107131-120107138 chr11:120107138-120107153 chr11:120107140-120107150 chr11:120107139-120107151 chr11:120107149-120107164 chr11:120107128-120107142 chr11:120107141-120107150 chr11:120107129-120107139 chr11:120107142-120107149 chr11:120107151-120107161 chr11:120107135-120107157 chr11:120107128-120107140 chr11:120107130-120107139 chr11:120107129-120107139 chr11:120107152-120107163
17	TEAD4	chr11:120107048-120108004	K562	blood:	n/a	n/a
18	POU2F2	chr11:120107006-120107924	GM12878	blood:	n/a	chr11:120107151-120107161 chr11:120107141-120107151 chr11:120107152-120107162 chr11:120107127-120107142 chr11:120107140-120107150 chr11:120107131-120107138 chr11:120107138-120107153 chr11:120107140-120107150 chr11:120107139-120107151 chr11:120107149-120107164 chr11:120107128-120107142 chr11:120107141-120107150 chr11:120107129-120107139 chr11:120107142-120107149 chr11:120107151-120107161 chr11:120107135-120107157 chr11:120107128-120107140 chr11:120107130-120107139 chr11:120107129-120107139 chr11:120107152-120107163

No.	Distal block	Cell Line	Cell type
1	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
2	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
3	chr11:120106492..120108262-chr11:120175100..120176692,2	MCF-7	breast:
4	chr11:120105900..120109423-chr11:120193866..120196780,3	MCF-7	breast:
5	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
6	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
7	chr11:120036264..120041871-chr11:120106231..120109757,9	K562	blood:
8	chr11:119987020..119991053-chr11:120105932..120108438,3	K562	blood:
9	chr11:120105974..120107720-chr11:120187522..120190071,3	K562	blood:
10	chr11:120105780..120109103-chr11:120204882..120208710,5	K562	blood:
11	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
12	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
13	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
14	chr11:120106275..120108882-chr16:71494675..71496479,2	MCF-7	breast:
15	chr11:120106132..120109259-chr11:120185529..120190071,6	K562	blood:
16	chr11:120105812..120109397-chr11:120193833..120197413,4	K562	blood:
17	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
18	chr11:120105904..120108316-chr11:120197614..120199213,2	K562	blood:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000196914	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction
ENSG00000184232	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000176984	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7934134	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
2	chr11:120099800-120110800	Weak transcription	Ovary	ovary
3	chr11:120101600-120111000	Weak transcription	Liver	Liver
4	chr11:120102000-120108200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:120105400-120108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:120105600-120107400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:120105600-120108000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:120105800-120107600	Enhancers	HMEC	breast
9	chr11:120105800-120107800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:120105800-120110000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:120106000-120107400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:120106000-120107400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:120106000-120107400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:120106000-120107600	Enhancers	NHEK	skin
15	chr11:120106000-120110200	Weak transcription	Spleen	Spleen
16	chr11:120106200-120107400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr11:120106200-120107600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:120106200-120110400	Weak transcription	Pancreas	Pancrea
19	chr11:120106400-120107400	Enhancers	GM12878-XiMat	blood
20	chr11:120106400-120107600	Enhancers	Brain Germinal Matrix	brain
21	chr11:120106600-120107400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:120106800-120110400	Weak transcription	Esophagus	oesophagus
23	chr11:120107000-120107400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr11:120107000-120108000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:120107000-120108400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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