Variant report

Variant	rs375818775
Chromosome Location	chr1:222791418-222791419
allele	A/C
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	YY1	chr1:222791358-222791746	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:222791369-222791585	GM12892	blood:	n/a	n/a
3	MAX	chr1:222791347-222792602	K562	blood:	n/a	chr1:222791868-222791878 chr1:222791405-222791415
4	MXI1	chr1:222790840-222791624	GM12878	blood:	n/a	chr1:222791038-222791053 chr1:222791036-222791051
5	POLR2A	chr1:222790926-222791658	K562	blood:	n/a	n/a
6	POLR2A	chr1:222791360-222791619	HUVEC	blood vessel:	n/a	n/a
7	YY1	chr1:222791362-222791805	GM12878	blood:	n/a	n/a
8	SMARCB1	chr1:222790794-222792564	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:222791393-222791593	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:222791337-222791687	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:222791356-222791663	A549	lung:	n/a	n/a
12	POLR2A	chr1:222790732-222791674	HEK293	kidney:	n/a	n/a
13	HEY1	chr1:222791349-222791714	K562	blood:	n/a	n/a
14	TAF1	chr1:222791342-222791762	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:222791315-222791597	Hela-S3	cervix:	n/a	n/a
16	YY1	chr1:222790497-222791857	SK-N-SH	brain:	n/a	chr1:222791173-222791182 chr1:222790508-222790518
17	YY1	chr1:222790917-222791777	NT2-D1	testis:	n/a	chr1:222791173-222791182
18	CHD2	chr1:222790921-222791899	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:222791372-222791677	HCT-116	colon:	n/a	n/a
20	YY1	chr1:222791326-222791732	K562	blood:	n/a	n/a
21	POLR2A	chr1:222791357-222791580	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:222791287-222791741	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr1:222790850-222791634	K562	blood:	n/a	n/a
24	YY1	chr1:222791331-222792092	K562	blood:	n/a	chr1:222791989-222792003
25	POLR2A	chr1:222790693-222791704	GM18951	blood:	n/a	n/a
26	FOXP2	chr1:222791366-222791599	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr1:222791308-222791610	U87	brain:	n/a	n/a
28	POLR2A	chr1:222790788-222791805	ProgFib	skin:	n/a	n/a
29	POLR2A	chr1:222791338-222791656	H1-neurons	neurons:	n/a	n/a
30	TAF1	chr1:222791345-222791867	HepG2	liver:	n/a	n/a
31	YY1	chr1:222791355-222791863	K562	blood:	n/a	n/a
32	POLR2A	chr1:222790821-222791716	HUVEC	blood vessel:	n/a	n/a
33	TAF7	chr1:222791352-222791567	K562	blood:	n/a	n/a
34	SIN3AK20	chr1:222791373-222791575	HepG2	liver:	n/a	n/a
35	EGR1	chr1:222791329-222791886	K562	blood:	n/a	chr1:222791739-222791752 chr1:222791739-222791752 chr1:222791739-222791752 chr1:222791742-222791751 chr1:222791740-222791754 chr1:222791743-222791756 chr1:222791406-222791416
36	POLR2A	chr1:222790711-222791715	GM19193	blood:	n/a	n/a
37	TBP	chr1:222790757-222791703	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr1:222791362-222791628	SK-N-SH	brain:	n/a	n/a
39	UBTF	chr1:222791356-222792786	K562	blood:	n/a	n/a
40	REST	chr1:222791370-222791615	A549	lung:	n/a	n/a
41	ZBTB7A	chr1:222791335-222791952	K562	blood:	n/a	chr1:222791885-222791896
42	MAX	chr1:222790859-222792630	K562	blood:	n/a	chr1:222791038-222791047 chr1:222791868-222791878 chr1:222791405-222791415
43	POLR2A	chr1:222791261-222791822	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr1:222791342-222791634	K562	blood:	n/a	n/a
45	POLR2A	chr1:222790758-222791642	GM12878	blood:	n/a	n/a
46	TAF1	chr1:222791190-222791630	MCF-7	breast:	n/a	n/a
47	REST	chr1:222791375-222791847	HL-60	blood:	n/a	n/a
48	POLR2A	chr1:222791381-222791635	A549	lung:	n/a	n/a
49	SIN3AK20	chr1:222791377-222791610	PFSK-1	brain:	n/a	n/a
50	TAF1	chr1:222791384-222791646	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
2	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
3	chr1:222790149..222792584-chr1:222885363..222887404,2	K562	blood:
4	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
5	chr1:222790877..222794262-chr1:222817668..222820285,3	MCF-7	breast:
6	chr1:222789930..222793106-chr1:222884660..222888170,6	K562	blood:
7	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
8	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
9	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:
10	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:

Variant related genes	Relation type
MIA3	TF binding region
ENSG00000225265	Chromatin interaction
ENSG00000229399	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000154305	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000143498	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv3325041	chr1:222790354-222793202	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 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	chr1:222790400-222791600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:222790400-222792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:222790400-222792200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:222790400-222792400	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:222790400-222792600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:222790400-222792600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:222790400-222792600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:222790400-222792800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:222790400-222792800	Active TSS	Ovary	ovary
10	chr1:222790400-222793000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:222790600-222792200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:222790600-222792200	Active TSS	Fetal Brain Female	brain
13	chr1:222790600-222792400	Active TSS	Brain Cingulate Gyrus	brain
14	chr1:222790600-222792400	Active TSS	Brain Substantia Nigra	brain
15	chr1:222790600-222792400	Active TSS	Placenta Amnion	Placenta Amnion
16	chr1:222790600-222792400	Active TSS	Right Ventricle	heart
17	chr1:222790600-222792600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:222790600-222792600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:222790600-222792600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:222790600-222792600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:222790600-222792600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:222790600-222792600	Active TSS	Aorta	Aorta
23	chr1:222790600-222792800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:222790600-222792800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:222790600-222792800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:222790600-222792800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:222790600-222792800	Active TSS	Fetal Kidney	kidney
28	chr1:222790600-222792800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:222790600-222793000	Active TSS	Pancreas	Pancrea
30	chr1:222790600-222793000	Active TSS	Right Atrium	heart
31	chr1:222790600-222793000	Active TSS	HSMMtube	muscle
32	chr1:222790600-222793200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr1:222790800-222792000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:222790800-222792000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:222790800-222792000	Active TSS	Spleen	Spleen
36	chr1:222790800-222792200	Active TSS	Primary T cells from cord blood	blood
37	chr1:222790800-222792200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:222790800-222792200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:222790800-222792200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:222790800-222792200	Active TSS	Brain Angular Gyrus	brain
41	chr1:222790800-222792200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr1:222790800-222792200	Active TSS	Rectal Smooth Muscle	rectum
43	chr1:222790800-222792200	Active TSS	Thymus	Thymus
44	chr1:222790800-222792200	Active TSS	Hela-S3	cervix
45	chr1:222790800-222792400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:222790800-222792400	Active TSS	Brain Anterior Caudate	brain
47	chr1:222790800-222792400	Active TSS	Esophagus	oesophagus
48	chr1:222790800-222792400	Active TSS	Left Ventricle	heart
49	chr1:222790800-222792400	Active TSS	Psoas Muscle	Psoas
50	chr1:222790800-222792400	Active TSS	Small Intestine	intestine

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