Variant report

Variant	rs35874206
Chromosome Location	chr16:70720630-70720631
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	POLR2A	chr16:70719834-70720800	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:70719815-70721325	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:70720350-70720710	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr16:70719175-70720637	HepG2	liver:	n/a	chr16:70719992-70720001
5	POLR2A	chr16:70720547-70720741	GM12878	blood:	n/a	n/a
6	CHD1	chr16:70718330-70720779	IMR90	lung:	n/a	n/a
7	MAX	chr16:70719245-70721574	NB4	blood:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70719259-70719269
8	CREB1	chr16:70718817-70720776	HepG2	liver:	n/a	n/a
9	MAX	chr16:70719282-70720824	ECC-1	luminal epithelium:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002
10	MAZ	chr16:70719009-70720678	K562	blood:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70719259-70719269
11	POLR2A	chr16:70719909-70720942	U87	brain:	n/a	n/a
12	EP300	chr16:70719797-70720665	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:70720620-70720672	MCF-7	breast:	n/a	n/a
14	MAX	chr16:70720508-70720811	K562	blood:	n/a	n/a
15	MAX	chr16:70714850-70722307	HepG2	liver:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70716363-70716373 chr16:70719259-70719269
16	BHLHE40	chr16:70719828-70721453	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:70720535-70720856	ECC-1	luminal epithelium:	n/a	n/a
18	MXI1	chr16:70718251-70721759	IMR90	lung:	n/a	chr16:70718377-70718392 chr16:70719992-70720001 chr16:70720875-70720884
19	POLR2A	chr16:70718748-70721083	K562	blood:	n/a	n/a
20	HMGN3	chr16:70719308-70720803	K562	blood:	n/a	n/a
21	ZBTB7A	chr16:70719798-70721384	ECC-1	luminal epithelium:	n/a	chr16:70720538-70720552
22	POLR2A	chr16:70720282-70720633	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr16:70719326-70721362	K562	blood:	n/a	n/a
24	POLR2A	chr16:70720565-70720774	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:70719262-70721241	HL-60	blood:	n/a	n/a
26	MXI1	chr16:70718806-70720669	SK-N-SH	brain:	n/a	chr16:70719992-70720001
27	CEBPD	chr16:70720473-70720743	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:70720405-70720802	GM12892	blood:	n/a	n/a
29	POLR2A	chr16:70707751-70721480	HepG2	liver:	n/a	n/a
30	MAZ	chr16:70717552-70721715	IMR90	lung:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70719259-70719269
31	ZBTB7A	chr16:70719806-70720961	ECC-1	luminal epithelium:	n/a	chr16:70720538-70720552
32	POLR2A	chr16:70720546-70720973	U87	brain:	n/a	n/a
33	POLR2A	chr16:70719356-70720727	NB4	blood:	n/a	n/a
34	MYBL2	chr16:70720501-70721132	HepG2	liver:	n/a	n/a
35	POLR2A	chr16:70718864-70721688	HL-60	blood:	n/a	n/a
36	RFX5	chr16:70720416-70720736	HepG2	liver:	n/a	n/a
37	MAZ	chr16:70720612-70721308	Hela-S3	cervix:	n/a	n/a
38	SMARCB1	chr16:70719217-70721055	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:70720546-70720985	U87	brain:	n/a	n/a
40	POLR2A	chr16:70720601-70720644	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr16:70718413-70721562	IMR90	lung:	n/a	n/a
42	POLR2A	chr16:70719484-70720657	HUVEC	blood vessel:	n/a	n/a
43	FOSL2	chr16:70719798-70720707	HepG2	liver:	n/a	chr16:70720416-70720425

No.	Distal block	Cell Line	Cell type
1	chr16:70699407..70701314-chr16:70720329..70722044,2	MCF-7	breast:
2	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
3	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
4	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
5	chr1:28974074..28976735-chr16:70718527..70720954,2	K562	blood:
6	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
7	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000189091	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000103051	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11075777	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11075778	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075779	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075780	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11640399	0.83[AMR][1000 genomes]
rs11643085	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11646834	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11647479	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12597717	0.85[EUR][1000 genomes]
rs12599324	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12920683	0.83[AMR][1000 genomes]
rs12921898	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2864755	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3826272	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4985416	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985557	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985560	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56264804	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	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	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
19	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
20	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
21	esv3400505	chr16:70718476-70721024	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv3372973	chr16:70718876-70721424	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70718600-70720800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr16:70719400-70727800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr16:70719400-70729200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:70719400-70729400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:70720000-70720800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:70720000-70721000	Enhancers	Small Intestine	intestine
8	chr16:70720000-70721200	Enhancers	Stomach Mucosa	stomach
9	chr16:70720000-70721400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
11	chr16:70720200-70720800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:70720200-70720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:70720200-70720800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:70720200-70720800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr16:70720200-70720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr16:70720200-70720800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:70720200-70720800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr16:70720200-70720800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr16:70720200-70720800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr16:70720200-70720800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr16:70720200-70720800	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr16:70720200-70720800	Flanking Active TSS	Thymus	Thymus
23	chr16:70720200-70720800	Flanking Active TSS	Dnd41	blood
24	chr16:70720200-70720800	Flanking Active TSS	Hela-S3	cervix
25	chr16:70720200-70721000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:70720200-70721000	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr16:70720200-70721000	Flanking Active TSS	NHLF	lung
28	chr16:70720200-70721200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:70720200-70721200	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr16:70720200-70721200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr16:70720200-70721200	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr16:70720200-70721200	Flanking Active TSS	Fetal Thymus	thymus
33	chr16:70720200-70721200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr16:70720200-70721200	Flanking Active TSS	A549	lung
35	chr16:70720200-70721200	Flanking Active TSS	HepG2	liver
36	chr16:70720200-70721400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:70720200-70721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:70720200-70721400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr16:70720200-70722000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr16:70720200-70722800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:70720200-70728200	Enhancers	Fetal Heart	heart
42	chr16:70720400-70720800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:70720400-70720800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:70720400-70720800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:70720400-70721000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:70720400-70721200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr16:70720400-70721200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr16:70720400-70721200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr16:70720400-70721200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr16:70720400-70721200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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