Variant report

Variant	rs4273077
Chromosome Location	chr17:16849139-16849140
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	CHD2	chr17:16848997-16849267	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr17:16849080-16849230	NB4	blood:	n/a	n/a
3	RAD21	chr17:16849029-16849241	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr17:16849060-16849203	Pancreas_OC	pancreas:	n/a	n/a
5	CTCF	chr17:16849060-16849210	HMEC	breast:	n/a	n/a
6	CTCF	chr17:16849081-16849278	GM12892	blood:	n/a	n/a
7	CTCF	chr17:16849024-16849255	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr17:16849136-16849297	GM12878	blood:	n/a	n/a
9	CTCF	chr17:16849020-16849170	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr17:16849136-16849158	GM12891	blood:	n/a	n/a
11	POLR2A	chr17:16848877-16849612	GM12878	blood:	n/a	n/a
12	YY1	chr17:16848949-16849386	H1-hESC	embryonic stem cell:	n/a	chr17:16849077-16849089 chr17:16849113-16849124 chr17:16849074-16849090
13	MAZ	chr17:16849075-16849168	HepG2	liver:	n/a	chr17:16849097-16849106
14	POLR2A	chr17:16849113-16849592	GM12878	blood:	n/a	n/a
15	CTCF	chr17:16849020-16849170	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr17:16849000-16849150	NHEK	skin:	n/a	n/a
17	CTCF	chr17:16849084-16849234	MCF-7	breast:	n/a	n/a
18	CTCF	chr17:16849120-16849270	GM12867	blood:	n/a	n/a
19	CTCF	chr17:16849138-16849198	MCF-7	breast:	n/a	n/a
20	CTCF	chr17:16849020-16849170	GM06990	blood:	n/a	n/a
21	ZNF143	chr17:16849003-16849428	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr17:16849104-16849211	MCF-7	breast:	n/a	n/a
23	POLR2A	chr17:16845628-16849512	GM12892	blood:	n/a	n/a
24	RAD21	chr17:16848987-16849338	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr17:16849000-16849150	BE2_C	brain:	n/a	n/a
26	RAD21	chr17:16849022-16849247	HepG2	liver:	n/a	n/a
27	CTCF	chr17:16849040-16849190	Caco-2	colon:	n/a	n/a
28	POLR2A	chr17:16846219-16849536	GM12892	blood:	n/a	n/a
29	RAD21	chr17:16848943-16849420	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr17:16849060-16849210	HepG2	liver:	n/a	n/a
31	CTCF	chr17:16849020-16849170	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr17:16849060-16849210	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr17:16849060-16849210	GM12874	blood:	n/a	n/a
34	CTCF	chr17:16848946-16849305	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr17:16848917-16849233	H1-hESC	embryonic stem cell:	n/a	chr17:16849074-16849090 chr17:16849113-16849124 chr17:16849077-16849089
36	CTCF	chr17:16849105-16849190	MCF-7	breast:	n/a	n/a
37	CTCF	chr17:16849000-16849150	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr17:16849100-16849250	WERI-Rb-1	eye:	n/a	n/a
39	RAD21	chr17:16849035-16849220	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr17:16849126-16849207	Fibrobl	skin:	n/a	n/a
41	CTCF	chr17:16849080-16849230	HCPEpiC	choroid plexus:	n/a	n/a
42	POLR2A	chr17:16845221-16849358	GM12878	blood:	n/a	n/a
43	CTCF	chr17:16849120-16849270	BE2_C	brain:	n/a	n/a
44	CTCF	chr17:16849085-16849260	T-47D	breast:	n/a	n/a
45	CTCF	chr17:16849040-16849190	HRE	kidney:	n/a	n/a
46	CTCF	chr17:16849060-16849210	GM12869	blood:	n/a	n/a
47	POLR2A	chr17:16845998-16849832	GM12892	blood:	n/a	n/a
48	CTCF	chr17:16849000-16849150	HCT-116	colon:	n/a	n/a
49	POLR2A	chr17:16846057-16849577	GM12878	blood:	n/a	n/a
50	CTCF	chr17:16849060-16849210	WERI-Rb-1	eye:	n/a	n/a

Variant related genes	Relation type
TNFRSF13B	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11871721	0.85[EUR][1000 genomes]
rs34562254	0.90[EUR][1000 genomes]
rs3751984	0.86[EUR][1000 genomes]
rs3751985	0.83[EUR][1000 genomes]
rs4500785	0.96[EUR][1000 genomes]
rs4561508	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs4792798	0.85[EUR][1000 genomes]
rs4792799	0.80[EUR][1000 genomes]
rs4792800	1.00[CEU][hapmap];0.84[TSI][hapmap];0.96[EUR][1000 genomes]
rs4792801	0.85[CHD][hapmap]
rs4985726	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs55672385	0.86[EUR][1000 genomes]
rs57166795	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs57293260	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs57382045	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58647797	0.82[EUR][1000 genomes]
rs73292853	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv833379	chr17:16683585-16859539	Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1055688	chr17:16800788-16868860	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907726	chr17:16821204-16875636	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Hematological and biochemical traits	20139978	GWAS catalog
Multiple myeloma	23955597	GWAS catalog

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16842600-16849200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:16844200-16849200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:16844200-16852000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:16846400-16850400	Enhancers	Brain Hippocampus Middle	brain
5	chr17:16846400-16851600	Enhancers	Brain Cingulate Gyrus	brain
6	chr17:16846600-16849400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr17:16846600-16852000	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr17:16847400-16850400	Genic enhancers	GM12878-XiMat	blood
9	chr17:16847800-16851600	Enhancers	Primary B cells from cord blood	blood
10	chr17:16848000-16849400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:16848000-16849400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr17:16848000-16849400	Strong transcription	Spleen	Spleen
13	chr17:16848200-16849600	Enhancers	Pancreas	Pancrea
14	chr17:16848200-16849800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr17:16848600-16849400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr17:16848600-16849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr17:16848600-16850400	Enhancers	Brain Angular Gyrus	brain
18	chr17:16848600-16851800	Enhancers	Brain Substantia Nigra	brain
19	chr17:16848800-16849200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:16848800-16849400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr17:16848800-16849400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr17:16848800-16849400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr17:16848800-16849400	Enhancers	A549	lung
24	chr17:16848800-16849600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr17:16848800-16849600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr17:16849000-16849200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr17:16849000-16849800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr17:16849000-16849800	Enhancers	Brain Anterior Caudate	brain

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