Variant report

Variant	rs11643085
Chromosome Location	chr16:70714584-70714585
allele	C/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	RCOR1	chr16:70714478-70714593	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:70714502-70714666	MCF-7	breast:	n/a	n/a
3	POLR2A	chr16:70714196-70714719	HepG2	liver:	n/a	n/a
4	RAD21	chr16:70713841-70714660	SK-N-SH	brain:	n/a	chr16:70714328-70714340 chr16:70713990-70714003 chr16:70714327-70714336 chr16:70714328-70714338
5	POLR2A	chr16:70714502-70714587	K562	blood:	n/a	n/a
6	POLR2A	chr16:70714571-70714797	K562	blood:	n/a	n/a
7	POLR2A	chr16:70714037-70719552	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:70714329-70716298	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:70707751-70721480	HepG2	liver:	n/a	n/a
10	CTCF	chr16:70714520-70714670	HCPEpiC	choroid plexus:	n/a	n/a
11	MAZ	chr16:70713451-70714689	IMR90	lung:	n/a	chr16:70714680-70714689

No.	Distal block	Cell Line	Cell type
1	chr16:70412847..70415449-chr16:70713492..70715384,2	MCF-7	breast:
2	chr16:70714365..70716642-chr16:70800502..70803105,2	K562	blood:
3	chr16:70685129..70687949-chr16:70714245..70716905,2	K562	blood:
4	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
5	chr16:70713469..70715146-chr16:70778729..70780747,2	MCF-7	breast:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000260111	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11075777	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11075778	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075779	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075780	0.90[ASN][1000 genomes]
rs11640399	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11646834	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11647479	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12597717	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12599324	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12920683	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12921898	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2864755	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35874206	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3826272	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985416	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985557	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985560	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56264804	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499333	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7195572	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS 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 target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
17	nsv906886	chr16:70712549-70727324	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	esv3395753	chr16:70712901-70715049	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv906887	chr16:70714434-70727324	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	nsv572947	chr16:70714434-70731870	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
2	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70695600-70714600	Strong transcription	Liver	Liver
4	chr16:70700400-70718800	Weak transcription	Small Intestine	intestine
5	chr16:70703000-70715200	Strong transcription	Thymus	Thymus
6	chr16:70703000-70717800	Weak transcription	Hela-S3	cervix
7	chr16:70703800-70714600	Strong transcription	Dnd41	blood
8	chr16:70704600-70715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:70705200-70715200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:70705800-70715400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:70708000-70718600	Weak transcription	Fetal Kidney	kidney
12	chr16:70708200-70714600	Strong transcription	Gastric	stomach
13	chr16:70708800-70715400	Weak transcription	Psoas Muscle	Psoas
14	chr16:70710000-70718600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:70710600-70714800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:70710800-70715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:70711000-70715200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:70711000-70715400	Weak transcription	NH-A	brain
19	chr16:70711000-70716000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:70711000-70717800	Enhancers	Fetal Heart	heart
21	chr16:70711000-70718800	Weak transcription	Primary T cells from cord blood	blood
22	chr16:70711400-70715200	Genic enhancers	Spleen	Spleen
23	chr16:70711800-70719000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:70712200-70715200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr16:70712200-70718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:70712400-70718600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:70712600-70715200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr16:70712600-70717600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:70712600-70717600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr16:70712800-70717000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr16:70712800-70717000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:70713200-70715000	Weak transcription	HSMMtube	muscle
33	chr16:70713200-70715200	Weak transcription	Aorta	Aorta
34	chr16:70713200-70715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:70713200-70718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr16:70713400-70714800	Genic enhancers	Colonic Mucosa	Colon
37	chr16:70713400-70714800	Weak transcription	Pancreas	Pancrea
38	chr16:70713400-70715000	Weak transcription	HSMM	muscle
39	chr16:70713400-70715000	Genic enhancers	NHLF	lung
40	chr16:70713400-70715200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:70713400-70715800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:70713400-70716000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:70713400-70716200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:70713400-70717200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr16:70713400-70718400	Weak transcription	K562	blood
46	chr16:70713600-70714600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr16:70713600-70715000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:70713600-70715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr16:70713600-70717800	Genic enhancers	Fetal Stomach	stomach
50	chr16:70713800-70715000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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