Variant report

Variant	rs17839572
Chromosome Location	chr16:31209224-31209225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31205085-31214379	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr16:31208969-31209305	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:31196099-31214010	K562	blood:	n/a	n/a
4	JUND	chr16:31208591-31210461	A549	lung:	n/a	n/a
5	POLR2A	chr16:31207436-31211574	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr16:31196354-31214629	GM12891	blood:	n/a	n/a
7	POLR2A	chr16:31207544-31209480	K562	blood:	n/a	n/a
8	POLR2A	chr16:31196046-31214408	GM12892	blood:	n/a	n/a
9	POU2F2	chr16:31208921-31209611	GM12891	blood:	n/a	n/a
10	POLR2A	chr16:31196323-31214177	GM12892	blood:	n/a	n/a
11	POLR2A	chr16:31196746-31214240	GM12891	blood:	n/a	n/a
12	MTA3	chr16:31208186-31211539	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:31203206-31211716	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr16:31209015-31211472	U87	brain:	n/a	n/a
15	POLR2A	chr16:31196474-31211565	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:31205097-31211681	U87	brain:	n/a	n/a
17	POLR2A	chr16:31197288-31214611	GM12891	blood:	n/a	n/a
18	POLR2A	chr16:31208991-31211611	K562	blood:	n/a	n/a
19	POLR2A	chr16:31207313-31211461	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr16:31208541-31211769	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr16:31209043-31211485	GM12878	blood:	n/a	n/a
22	POLR2A	chr16:31200960-31211583	GM12878	blood:	n/a	n/a
23	POLR2A	chr16:31208961-31211731	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr16:31209038-31209228	A549	lung:	n/a	n/a
25	POLR2A	chr16:31208660-31209343	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:31208966-31209657	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:31208598-31209558	GM19193	blood:	n/a	n/a
28	HEY1	chr16:31209020-31209554	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:31208494-31211873	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr16:31209066-31209237	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:31208545-31209660	K562	blood:	n/a	n/a
32	POLR2A	chr16:31196345-31214090	GM12892	blood:	n/a	n/a
33	POLR2A	chr16:31208998-31210611	GM12891	blood:	n/a	n/a
34	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
35	POLR2A	chr16:31209047-31209570	HepG2	liver:	n/a	n/a
36	STAT5A	chr16:31208953-31209829	GM12878	blood:	n/a	chr16:31209192-31209204
37	POLR2A	chr16:31196205-31214694	GM12891	blood:	n/a	n/a
38	POLR2A	chr16:31207179-31209870	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:31209019-31209297	K562	blood:	n/a	n/a
40	POLR2A	chr16:31208609-31210381	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr16:31209033-31209668	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr16:31208991-31211828	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr16:31208980-31209280	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr16:31208118-31211674	HL-60	blood:	n/a	n/a
45	POLR2A	chr16:31209065-31211178	HUVEC	blood vessel:	n/a	n/a
46	BCL3	chr16:31208385-31210188	A549	lung:	n/a	chr16:31209897-31209906
47	BCL3	chr16:31208951-31209492	A549	lung:	n/a	n/a
48	POLR2A	chr16:31209079-31209599	HCT-116	colon:	n/a	n/a
49	POLR2A	chr16:31195988-31211763	HepG2	liver:	n/a	n/a
50	ELF1	chr16:31208998-31209424	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30968533..30970596-chr16:31206944..31209887,2	K562	blood:
2	chr16:31083551..31085436-chr16:31207964..31210898,2	K562	blood:
3	chr16:31207553..31209957-chr16:31462352..31464539,2	MCF-7	breast:
4	chr16:31127224..31129502-chr16:31208547..31210568,3	MCF-7	breast:
5	chr16:30984283..30986208-chr16:31207828..31210743,3	K562	blood:

No data

Variant related genes	Relation type
C16orf98	TF binding region
ENSG00000167394	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000262766	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs60534953	0.85[AFR][1000 genomes]
rs61733965	0.82[AFR][1000 genomes]
rs67676356	0.82[AFR][1000 genomes]
rs7202897	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs73530272	0.87[AFR][1000 genomes]
rs73530287	0.82[AFR][1000 genomes]
rs73530295	0.85[AFR][1000 genomes]
rs73530302	0.85[AFR][1000 genomes]
rs73532204	0.85[AFR][1000 genomes]
rs73532252	0.85[AFR][1000 genomes]
rs73532256	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31194400-31211000	Strong transcription	Fetal Intestine Large	intestine
2	chr16:31195000-31211000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:31195000-31211000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr16:31195400-31210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:31195400-31211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:31195400-31211400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:31195400-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:31195400-31211600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr16:31195400-31212400	Strong transcription	Fetal Stomach	stomach
10	chr16:31195400-31213000	Weak transcription	Right Atrium	heart
11	chr16:31195600-31209400	Strong transcription	Lung	lung
12	chr16:31195600-31210600	Strong transcription	A549	lung
13	chr16:31195600-31210600	Strong transcription	NH-A	brain
14	chr16:31195600-31210800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:31195600-31211200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr16:31195600-31211200	Strong transcription	Fetal Intestine Small	intestine
17	chr16:31195600-31211800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr16:31195600-31211800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr16:31195600-31212400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:31195600-31212400	Strong transcription	Fetal Brain Female	brain
21	chr16:31195800-31212600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:31196600-31209600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:31196600-31210000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:31196600-31211400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr16:31197000-31211000	Strong transcription	Osteobl	bone
26	chr16:31197200-31209800	Strong transcription	Adipose Nuclei	Adipose
27	chr16:31197200-31211600	Strong transcription	NHDF-Ad	bronchial
28	chr16:31197200-31212600	Strong transcription	Fetal Muscle Leg	muscle
29	chr16:31197600-31209600	Strong transcription	HSMM	muscle
30	chr16:31197600-31212600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:31197800-31209600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:31197800-31210000	Strong transcription	Fetal Thymus	thymus
33	chr16:31198000-31211200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:31198600-31211200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr16:31198600-31211200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:31198600-31212600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr16:31198800-31209400	Strong transcription	Brain Cingulate Gyrus	brain
38	chr16:31198800-31212200	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr16:31199800-31211200	Strong transcription	Thymus	Thymus
40	chr16:31200800-31213200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr16:31202000-31211600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:31202600-31213000	Weak transcription	Psoas Muscle	Psoas
43	chr16:31203800-31212000	Weak transcription	Fetal Heart	heart
44	chr16:31204800-31212400	Weak transcription	Stomach Mucosa	stomach
45	chr16:31205800-31210400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr16:31205800-31212200	Weak transcription	Small Intestine	intestine
47	chr16:31205800-31214800	Weak transcription	Hela-S3	cervix
48	chr16:31206000-31210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr16:31206400-31213200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr16:31206800-31209800	Weak transcription	Fetal Brain Male	brain

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