Variant report

Variant	rs7193401
Chromosome Location	chr16:71929278-71929279
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	TAF1	chr16:71928538-71929822	MCF-7	breast:	n/a	n/a
2	TCF12	chr16:71927822-71930235	A549	lung:	n/a	n/a
3	ZNF143	chr16:71929112-71929573	K562	blood:	n/a	chr16:71929393-71929403
4	YY1	chr16:71928789-71929826	GM12878	blood:	n/a	chr16:71929427-71929443 chr16:71929428-71929438 chr16:71929270-71929284 chr16:71929428-71929450 chr16:71929426-71929443 chr16:71929264-71929275 chr16:71929431-71929439
5	TAF1	chr16:71928825-71929678	GM12891	blood:	n/a	n/a
6	ELF1	chr16:71928804-71930284	GM12878	blood:	n/a	chr16:71929326-71929335 chr16:71929820-71929832 chr16:71929527-71929538
7	CTCF	chr16:71929180-71929330	HCFaa	heart:	n/a	n/a
8	TAF7	chr16:71928961-71929698	H1-hESC	embryonic stem cell:	n/a	n/a
9	SMC3	chr16:71929228-71929358	K562	blood:	n/a	n/a
10	PBX3	chr16:71928682-71929804	A549	lung:	n/a	n/a
11	JUND	chr16:71928813-71929513	HepG2	liver:	n/a	chr16:71928903-71928912 chr16:71929204-71929214 chr16:71929206-71929217 chr16:71929203-71929214 chr16:71929204-71929214 chr16:71929204-71929214 chr16:71929204-71929214
12	GATA3	chr16:71929012-71929427	T-47D	breast:	n/a	chr16:71929206-71929215 chr16:71929203-71929210
13	POLR2A	chr16:71928104-71930257	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr16:71927836-71930365	MCF-7	breast:	n/a	n/a
15	NR2F2	chr16:71928967-71930301	K562	blood:	n/a	chr16:71930156-71930171
16	TAF1	chr16:71928778-71930216	H1-neurons	neurons:	n/a	n/a
17	MYBL2	chr16:71927838-71930298	HepG2	liver:	n/a	n/a
18	BCLAF1	chr16:71928792-71929638	K562	blood:	n/a	chr16:71929006-71929015 chr16:71928905-71928914 chr16:71929246-71929255
19	TAF1	chr16:71928701-71930236	ECC-1	luminal epithelium:	n/a	n/a
20	YY1	chr16:71928954-71929753	NT2-D1	testis:	n/a	chr16:71929427-71929443 chr16:71929428-71929438 chr16:71929270-71929284 chr16:71929428-71929450 chr16:71929426-71929443 chr16:71929264-71929275 chr16:71929431-71929439
21	USF1	chr16:71929097-71929495	A549	lung:	n/a	n/a
22	POLR2A	chr16:71928653-71929736	SK-N-SH	brain:	n/a	n/a
23	MAX	chr16:71928692-71930193	MCF-7	breast:	n/a	n/a
24	MYC	chr16:71928975-71929859	MCF-7	breast:	n/a	n/a
25	POLR2A	chr16:71928214-71930152	GM18951	blood:	n/a	n/a
26	CEBPD	chr16:71928632-71929786	HepG2	liver:	n/a	n/a
27	STAT5A	chr16:71929010-71929753	GM12878	blood:	n/a	n/a
28	SP1	chr16:71928999-71929591	K562	blood:	n/a	chr16:71929363-71929373 chr16:71929363-71929373
29	CBX3	chr16:71929164-71929550	K562	blood:	n/a	n/a
30	CHD2	chr16:71928626-71930214	GM12878	blood:	n/a	chr16:71929163-71929173
31	NR2F2	chr16:71928677-71930404	MCF-7	breast:	n/a	chr16:71930156-71930171
32	POLR2A	chr16:71928189-71930271	GM12878	blood:	n/a	n/a
33	HEY1	chr16:71928615-71929789	HepG2	liver:	n/a	n/a
34	GABPA	chr16:71928030-71930358	MCF-7	breast:	n/a	chr16:71929165-71929174 chr16:71929394-71929403
35	MYC	chr16:71929021-71929450	GM12878	blood:	n/a	n/a
36	CREB1	chr16:71929040-71929560	A549	lung:	n/a	n/a
37	USF1	chr16:71929108-71929493	K562	blood:	n/a	n/a
38	FOXA2	chr16:71928904-71929691	A549	lung:	n/a	n/a
39	SIN3AK20	chr16:71928618-71929848	PANC-1	pancreas:	n/a	n/a
40	ZNF217	chr16:71929085-71929419	MCF-7	breast:	n/a	n/a
41	RFX5	chr16:71929052-71929570	K562	blood:	n/a	n/a
42	POLR2A	chr16:71928803-71929714	A549	lung:	n/a	n/a
43	MYC	chr16:71929000-71929514	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr16:71928959-71929577	HUVEC	blood vessel:	n/a	n/a
45	TAF1	chr16:71928818-71930120	MCF-7	breast:	n/a	n/a
46	YY1	chr16:71929107-71929714	A549	lung:	n/a	chr16:71929427-71929443 chr16:71929428-71929438 chr16:71929270-71929284 chr16:71929428-71929450 chr16:71929426-71929443 chr16:71929264-71929275 chr16:71929431-71929439
47	TBL1XR1	chr16:71928940-71930017	K562	blood:	n/a	n/a
48	MAX	chr16:71928749-71930218	ECC-1	luminal epithelium:	n/a	n/a
49	TEAD4	chr16:71928819-71929605	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr16:71928767-71929802	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71927209..71930992-chr16:71962077..71965660,4	K562	blood:
2	chr16:71918380..71919147-chr16:71928746..71929303,2	K562	blood:
3	chr16:71913385..71915141-chr16:71927812..71929318,2	MCF-7	breast:
4	chr16:71841145..71844669-chr16:71927071..71931411,13	MCF-7	breast:
5	chr16:71927384..71929645-chr16:71963039..71965792,3	MCF-7	breast:
6	chr16:71928455..71931068-chr16:71956099..71958859,3	MCF-7	breast:
7	chr16:71756273..71758753-chr16:71927656..71930818,3	MCF-7	breast:
8	chr16:71755635..71758602-chr16:71927230..71929480,2	MCF-7	breast:
9	chr11:71791494..71792387-chr16:71929263..71929932,2	Hela-S3	cervix:
10	chr16:71927209..71930992-chr16:71962077..71965220,3	K562	blood:
11	chr16:71923118..71926504-chr16:71927692..71930407,4	K562	blood:
12	chr16:71929075..71929880-chr8:144679540..144680239,2	Hela-S3	cervix:
13	chr16:71878320..71880402-chr16:71929242..71933378,4	MCF-7	breast:
14	chr16:71927590..71930855-chr16:71952254..71956665,4	MCF-7	breast:
15	chr16:71840867..71844185-chr16:71927744..71931104,8	K562	blood:
16	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:
17	chr16:71916483..71919796-chr16:71926616..71929598,5	K562	blood:
18	chr16:71928144..71931559-chr16:72041567..72044276,4	MCF-7	breast:
19	chr16:71841370..71844789-chr16:71927787..71931052,12	MCF-7	breast:
20	chr16:71927973..71929865-chr16:72045946..72047910,3	MCF-7	breast:
21	chr16:71927888..71929610-chr16:72042486..72044051,2	MCF-7	breast:
22	chr16:71929035..71931345-chr16:71958752..71961424,2	K562	blood:
23	chr16:71927023..71929738-chr16:72042635..72044988,2	K562	blood:
24	chr16:71842406..71843188-chr16:71928972..71929897,2	MCF-7	breast:

Variant related genes	Relation type
ZNF821	TF binding region
IST1	TF binding region
ENSG00000166747	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000102967	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000179886	Chromatin interaction
ENSG00000261337	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000104529	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11075909	1.00[EUR][1000 genomes]
rs11859593	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11863771	1.00[EUR][1000 genomes]
rs11865439	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11867138	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13330881	1.00[EUR][1000 genomes]
rs28421940	1.00[EUR][1000 genomes]
rs28602614	1.00[EUR][1000 genomes]
rs35999277	1.00[EUR][1000 genomes]
rs7202872	1.00[AMR][1000 genomes]
rs7204348	1.00[AMR][1000 genomes]
rs7205640	1.00[AMR][1000 genomes]
rs73586193	1.00[EUR][1000 genomes]
rs73588120	1.00[EUR][1000 genomes]
rs73588121	1.00[EUR][1000 genomes]
rs8050993	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8051875	1.00[EUR][1000 genomes]
rs8054602	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71927600-71930400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr16:71927600-71930800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:71927800-71929400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:71927800-71929800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:71927800-71930400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:71927800-71930400	Active TSS	Brain Anterior Caudate	brain
7	chr16:71927800-71930400	Active TSS	Osteobl	bone
8	chr16:71927800-71930600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:71927800-71930600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:71927800-71930600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:71927800-71930600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:71927800-71930600	Active TSS	Fetal Kidney	kidney
13	chr16:71927800-71930600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr16:71927800-71930600	Active TSS	Rectal Smooth Muscle	rectum
15	chr16:71927800-71930800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr16:71927800-71930800	Active TSS	NHLF	lung
17	chr16:71927800-71931000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr16:71927800-71931000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:71927800-71931200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:71927800-71931200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr16:71927800-71931200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr16:71927800-71931200	Active TSS	Right Ventricle	heart
23	chr16:71927800-71931200	Active TSS	HSMM	muscle
24	chr16:71927800-71931400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr16:71927800-71931400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr16:71928000-71929400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr16:71928000-71929600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:71928000-71930200	Active TSS	Pancreas	Pancrea
29	chr16:71928000-71930400	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr16:71928000-71930400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:71928000-71930400	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr16:71928000-71930400	Active TSS	Brain Angular Gyrus	brain
33	chr16:71928000-71930400	Active TSS	Brain Substantia Nigra	brain
34	chr16:71928000-71930400	Active TSS	Fetal Stomach	stomach
35	chr16:71928000-71930400	Active TSS	NHEK	skin
36	chr16:71928000-71930600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:71928000-71930600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:71928000-71930600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:71928000-71930600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:71928000-71930600	Active TSS	Brain Cingulate Gyrus	brain
41	chr16:71928000-71930600	Active TSS	Brain Hippocampus Middle	brain
42	chr16:71928000-71930600	Active TSS	Colonic Mucosa	Colon
43	chr16:71928000-71930600	Active TSS	Colon Smooth Muscle	Colon
44	chr16:71928000-71930600	Active TSS	Fetal Heart	heart
45	chr16:71928000-71930600	Active TSS	Fetal Lung	lung
46	chr16:71928000-71930600	Active TSS	Small Intestine	intestine
47	chr16:71928000-71930600	Bivalent/Poised TSS	HepG2	liver
48	chr16:71928000-71930600	Active TSS	NHDF-Ad	bronchial
49	chr16:71928000-71930800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:71928000-71930800	Active TSS	Stomach Mucosa	stomach

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