Variant report

Variant	rs16846493
Chromosome Location	chr1:173835226-173835227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:173830742-173838152	GM18951	blood:	n/a	n/a
2	POLR2A	chr1:173834360-173838079	U87	brain:	n/a	n/a
3	POLR2A	chr1:173834874-173837687	IMR90	lung:	n/a	n/a
4	TBL1XR1	chr1:173834693-173838215	K562	blood:	n/a	n/a
5	CHD1	chr1:173835208-173838152	GM12878	blood:	n/a	chr1:173836993-173837000 chr1:173837608-173837618 chr1:173837832-173837842
6	POLR2A	chr1:173828332-173838242	K562	blood:	n/a	n/a
7	CCNT2	chr1:173835152-173836326	K562	blood:	n/a	n/a
8	MYC	chr1:173834772-173838276	K562	blood:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
9	ATF2	chr1:173834423-173837701	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:173834558-173837359	U87	brain:	n/a	n/a
11	POLR2A	chr1:173825088-173838434	K562	blood:	n/a	n/a
12	POLR2A	chr1:173827997-173836225	HepG2	liver:	n/a	n/a
13	MAFK	chr1:173835226-173835555	H1-hESC	embryonic stem cell:	n/a	n/a
14	HEY1	chr1:173834548-173838164	K562	blood:	n/a	chr1:173837168-173837177 chr1:173837831-173837846 chr1:173837170-173837179
15	HEY1	chr1:173834529-173838121	K562	blood:	n/a	chr1:173837168-173837177 chr1:173837831-173837846 chr1:173837170-173837179
16	POLR2A	chr1:173824570-173837689	A549	lung:	n/a	n/a
17	E2F4	chr1:173834971-173835322	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:173829284-173838362	K562	blood:	n/a	n/a
19	POLR2A	chr1:173829132-173838052	PFSK-1	brain:	n/a	n/a
20	CHD1	chr1:173831798-173837941	IMR90	lung:	n/a	chr1:173836993-173837000 chr1:173837608-173837618 chr1:173837832-173837842
21	POLR2A	chr1:173834511-173838174	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:173829663-173838350	K562	blood:	n/a	n/a
23	POLR2A	chr1:173829737-173838261	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr1:173834774-173838367	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr1:173834452-173838179	HL-60	blood:	n/a	n/a
26	POLR2A	chr1:173829767-173838193	GM12878	blood:	n/a	n/a
27	HEY1	chr1:173834488-173835484	HepG2	liver:	n/a	n/a
28	HEY1	chr1:173834492-173835968	HepG2	liver:	n/a	n/a
29	HCFC1	chr1:173834547-173839270	Hela-S3	cervix:	n/a	n/a
30	JUN	chr1:173832403-173840952	K562	blood:	n/a	chr1:173837048-173837062 chr1:173840939-173840951 chr1:173837421-173837430 chr1:173837165-173837178 chr1:173837443-173837452 chr1:173833568-173833581 chr1:173837835-173837844 chr1:173840672-173840683 chr1:173837169-173837178
31	POLR2A	chr1:173829700-173838480	GM18505	blood:	n/a	n/a
32	POLR2A	chr1:173834554-173838099	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:173834530-173835579	K562	blood:	n/a	n/a
34	POLR2A	chr1:173830001-173838163	GM12892	blood:	n/a	n/a
35	POLR2A	chr1:173834514-173837754	GM12891	blood:	n/a	n/a
36	POLR2A	chr1:173834631-173835415	HL-60	blood:	n/a	n/a
37	CTCF	chr1:173835130-173835290	K562	blood:	n/a	n/a
38	POLR2A	chr1:173829120-173838093	GM12892	blood:	n/a	n/a
39	POLR2A	chr1:173828322-173838150	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUN	chr1:173834727-173835966	K562	blood:	n/a	n/a
41	POLR2A	chr1:173829750-173838166	K562	blood:	n/a	n/a
42	POLR2A	chr1:173829165-173838292	GM19099	blood:	n/a	n/a
43	POLR2A	chr1:173834360-173837899	U87	brain:	n/a	n/a
44	MXI1	chr1:173834502-173840026	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr1:173829841-173838018	HepG2	liver:	n/a	n/a
46	POLR2A	chr1:173830743-173837769	HepG2	liver:	n/a	n/a
47	POLR2A	chr1:173829350-173838204	MCF-7	breast:	n/a	n/a
48	MXI1	chr1:173834357-173838222	K562	blood:	n/a	n/a
49	POLR2A	chr1:173828141-173838409	PANC-1	pancreas:	n/a	n/a
50	IRF1	chr1:173834324-173836341	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:173835211-173835261	HNPCEpiC	eye:	n/a
2	chr1:173835211-173835261	AG09309	skin:	n/a
3	chr1:173835211-173835261	LNCaP	prostate:	n/a
4	chr1:173835211-173835261	SK-N-SH_RA	brain:	n/a
5	chr1:173835211-173835261	Caco-2	colon:	n/a
6	chr1:173835211-173835261	A549	lung:	n/a
7	chr1:173835211-173835261	HEK293	kidney:	embryo
8	chr1:173835211-173835261	HRPEpiC	eye:	n/a
9	chr1:173835211-173835261	CMK	blood:	n/a
10	chr1:173835211-173835261	HCPEpiC	choroid plexus:	n/a
11	chr1:173835211-173835261	GM12891	blood:	n/a
12	chr1:173835211-173835261	NT2-D1	testis:	n/a
13	chr1:173835211-173835261	MCF-7	breast:	n/a
14	chr1:173835211-173835261	HRCEpiC	kidney:	n/a
15	chr1:173835211-173835261	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:173835211-173835261	HCF	heart:	n/a
17	chr1:173835211-173835261	GM12892	blood:	n/a
18	chr1:173835211-173835261	AG04450	lung:	fetal
19	chr1:173835211-173835261	HepG2	liver:	n/a
20	chr1:173835211-173835261	Hela-S3	cervix:	n/a
21	chr1:173835211-173835261	Hepatocyte	liver:	n/a
22	chr1:173835211-173835261	GM06990	blood:	n/a
23	chr1:173835211-173835261	PrEC	prostate:	n/a
24	chr1:173835211-173835261	NHDF-neo	bronchial:	n/a
25	chr1:173835211-173835261	HL-60	blood:	n/a
26	chr1:173835211-173835261	SAEC	small airway:	n/a
27	chr1:173835211-173835261	HEEpiC	esophagus:	n/a
28	chr1:173835211-173835261	HMEC	breast:	n/a
29	chr1:173835211-173835261	SK-N-SH	brain:	n/a
30	chr1:173835211-173835261	BJ	skin:	n/a
31	chr1:173835211-173835261	GM12878	blood:	n/a
32	chr1:173835211-173835261	SK-N-MC	brain:	n/a
33	chr1:173835211-173835261	AG10803	skin:	n/a
34	chr1:173835211-173835261	NH-A	brain:	n/a
35	chr1:173835211-173835261	K562	blood:	n/a
36	chr1:173835211-173835261	Jurkat	blood:	n/a
37	chr1:173835211-173835261	HRE	kidney:	n/a
38	chr1:173835211-173835261	NHBE	bronchial:	n/a
39	chr1:173835211-173835261	BE2_C	brain:	n/a
40	chr1:173835211-173835261	ProgFib	skin:	n/a
41	chr1:173835211-173835261	GM19239	blood:	n/a
42	chr1:173835211-173835261	HCT-116	colon:	n/a
43	chr1:173835211-173835261	T-47D	breast:	n/a
44	chr1:173835211-173835261	IMR90	lung:	fetal
45	chr1:173835211-173835261	PFSK-1	brain:	n/a
46	chr1:173835211-173835261	ECC-1	luminal epithelium:	n/a
47	chr1:173835211-173835261	H1-hESC	embryonic stem cell:	embryo
48	chr1:173835211-173835261	AG04449	skin:	fetal
49	chr1:173835211-173835261	HIPEpiC	eye:	n/a
50	chr1:173835211-173835261	HUVEC	blood vessel:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
2	chr1:173834700..173840265-chr1:173989829..173994040,12	K562	blood:
3	chr1:173834799..173835399-chr11:62388719..62389511,2	Hela-S3	cervix:
4	chr1:173835088..173837217-chr1:173882626..173885539,2	K562	blood:
5	chr1:149857345..149859059-chr1:173835209..173837381,2	MCF-7	breast:
6	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
7	chr1:173833761..173839509-chr1:173990118..173994234,9	K562	blood:
8	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
9	chr1:173684233..173688038-chr1:173834072..173837696,4	K562	blood:
10	chr1:173835079..173837156-chr20:30194174..30197161,2	MCF-7	breast:
11	chr1:173684233..173685986-chr1:173834072..173838019,3	K562	blood:
12	chr1:173835118..173837073-chr1:173951885..173954734,2	K562	blood:
13	chr1:173831314..173839948-chr1:173984831..173993131,14	MCF-7	breast:
14	chr1:173832421..173839801-chr1:173885332..173891780,9	MCF-7	breast:
15	chr1:173834428..173840700-chr1:173878764..173885322,14	MCF-7	breast:
16	chr1:173831906..173839548-chr1:173987374..173993282,15	MCF-7	breast:
17	chr1:173789473..173804179-chr1:173828884..173842109,95	K562	blood:
18	chr1:173833863..173839457-chr1:173910408..173918981,14	MCF-7	breast:
19	chr1:173806912..173810743-chr1:173835161..173838732,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB37-2	chr1:173834991-173835344	NONHSAT007692

No data

Variant related genes	Relation type
GAS5	TF binding region
SNORD78	TF binding region
ZBTB37	TF binding region
ZBTB37	CpG island
GAS5	CpG island
SNORD78	CpG island
ENSG00000117592	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000117601	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000252231	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000236535	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs61738616	0.83[AMR][1000 genomes]
rs6425269	0.83[AMR][1000 genomes]
rs6667235	1.00[AMR][1000 genomes]
rs6671810	1.00[AMR][1000 genomes]
rs6678061	1.00[AMR][1000 genomes]
rs6686623	0.86[AFR][1000 genomes]
rs7522580	0.83[AMR][1000 genomes]
rs7551109	0.83[AMR][1000 genomes]
rs7554635	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 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	chr1:173819600-173835600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr1:173829600-173835600	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:173830800-173835800	Strong transcription	Placenta	Placenta
4	chr1:173831000-173836000	Strong transcription	Left Ventricle	heart
5	chr1:173831800-173837000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr1:173832200-173837000	Transcr. at gene 5' and 3'	K562	blood
7	chr1:173832400-173836000	Weak transcription	Aorta	Aorta
8	chr1:173832400-173836600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr1:173832400-173837000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr1:173832600-173835800	Weak transcription	Gastric	stomach
11	chr1:173832600-173836400	Transcr. at gene 5' and 3'	NH-A	brain
12	chr1:173832800-173835800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr1:173832800-173836400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:173832800-173836600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
15	chr1:173832800-173837000	Transcr. at gene 5' and 3'	A549	lung
16	chr1:173833000-173836200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
17	chr1:173833000-173836400	Transcr. at gene 5' and 3'	NHLF	lung
18	chr1:173833000-173836600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:173833000-173836600	Transcr. at gene 5' and 3'	Osteobl	bone
20	chr1:173833000-173836800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:173833200-173836000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:173833200-173836200	Transcr. at gene 5' and 3'	HMEC	breast
23	chr1:173833200-173836400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
24	chr1:173833200-173836800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
25	chr1:173833200-173837000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
26	chr1:173833400-173836200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:173833400-173836200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
28	chr1:173833400-173836200	Transcr. at gene 5' and 3'	Hela-S3	cervix
29	chr1:173833400-173837000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
30	chr1:173833600-173836600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
31	chr1:173833600-173836800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
32	chr1:173833600-173836800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:173833600-173837000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:173833600-173837000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
35	chr1:173833800-173835400	Genic enhancers	Primary hematopoietic stem cells	blood
36	chr1:173833800-173835600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:173833800-173836000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
38	chr1:173833800-173836000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:173833800-173836000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:173833800-173836200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:173833800-173836200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:173833800-173836400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
43	chr1:173833800-173836600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:173833800-173836800	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr1:173833800-173837000	Transcr. at gene 5' and 3'	NHEK	skin
46	chr1:173833800-173838000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:173834000-173835400	Genic enhancers	Primary B cells from cord blood	blood
48	chr1:173834000-173835600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:173834000-173835800	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr1:173834000-173835800	Genic enhancers	Liver	Liver

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