Variant report

Variant	rs8110634
Chromosome Location	chr19:19313803-19313804
allele	C/T
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	MXI1	chr19:19313560-19314482	IMR90	lung:	n/a	n/a
2	GABPA	chr19:19313617-19314544	SK-N-SH	brain:	n/a	chr19:19314232-19314241 chr19:19314232-19314243
3	MYC	chr19:19313441-19314475	K562	blood:	n/a	chr19:19314219-19314226
4	NFIC	chr19:19313795-19314253	HepG2	liver:	n/a	n/a
5	WRNIP1	chr19:19313742-19314384	GM12878	blood:	n/a	n/a
6	TCF12	chr19:19313790-19314518	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr19:19313296-19314332	U87	brain:	n/a	n/a
8	POLR2A	chr19:19313574-19314340	A549	lung:	n/a	n/a
9	NFATC1	chr19:19313406-19313916	GM12878	blood:	n/a	n/a
10	ZC3H11A	chr19:19313504-19314452	K562	blood:	n/a	n/a
11	POLR2A	chr19:19312877-19314458	K562	blood:	n/a	n/a
12	TFAP2C	chr19:19313670-19314330	Hela-S3	cervix:	n/a	chr19:19314097-19314112
13	BCL3	chr19:19313612-19314504	A549	lung:	n/a	chr19:19314395-19314403
14	POLR2A	chr19:19313229-19314443	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr19:19313476-19314438	HEK293	kidney:	n/a	n/a
16	POLR2A	chr19:19313562-19314390	ProgFib	skin:	n/a	n/a
17	E2F6	chr19:19313784-19314467	H1-hESC	embryonic stem cell:	n/a	chr19:19314233-19314242 chr19:19314133-19314140 chr19:19314190-19314207 chr19:19314133-19314140 chr19:19314133-19314140
18	MYC	chr19:19313610-19314451	NB4	blood:	n/a	chr19:19314219-19314226
19	CBX3	chr19:19313486-19314740	K562	blood:	n/a	n/a
20	POLR2A	chr19:19312378-19314424	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr19:19313803-19314561	K562	blood:	n/a	chr19:19314232-19314241 chr19:19314232-19314243
22	POLR2A	chr19:19313574-19314436	U87	brain:	n/a	n/a
23	E2F6	chr19:19313754-19314471	K562	blood:	n/a	chr19:19314233-19314242 chr19:19314133-19314140 chr19:19314190-19314207 chr19:19314133-19314140 chr19:19314133-19314140
24	MAX	chr19:19313746-19314544	A549	lung:	n/a	chr19:19314219-19314226
25	MAX	chr19:19313345-19314499	MCF-7	breast:	n/a	chr19:19314219-19314226
26	POLR2A	chr19:19313286-19314344	GM12891	blood:	n/a	n/a
27	MAX	chr19:19313738-19314399	Hela-S3	cervix:	n/a	chr19:19314219-19314226
28	STAT5A	chr19:19313357-19313828	GM12878	blood:	n/a	chr19:19313806-19313818 chr19:19313716-19313728
29	POLR2A	chr19:19313558-19314305	K562	blood:	n/a	n/a
30	REST	chr19:19313798-19314512	A549	lung:	n/a	chr19:19314396-19314405
31	ELF1	chr19:19313731-19314492	MCF-7	breast:	n/a	n/a
32	POLR2A	chr19:19312971-19314525	PANC-1	pancreas:	n/a	n/a
33	CREB1	chr19:19313793-19314459	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr19:19313515-19314492	HUVEC	blood vessel:	n/a	n/a
35	IRF1	chr19:19313603-19314467	K562	blood:	n/a	chr19:19314291-19314305
36	SMC3	chr19:19313732-19314488	Hela-S3	cervix:	n/a	n/a
37	HA-E2F1	chr19:19313759-19314615	MCF-7	breast:	n/a	chr19:19314233-19314242 chr19:19314133-19314140 chr19:19314190-19314207 chr19:19314133-19314140 chr19:19314133-19314140
38	POLR2A	chr19:19313302-19314425	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:19313666-19314499	ECC-1	luminal epithelium:	n/a	n/a
40	MTA3	chr19:19312714-19314565	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:19311999-19314667	SK-N-MC	brain:	n/a	n/a
42	MAX	chr19:19312767-19314532	K562	blood:	n/a	chr19:19314219-19314226
43	CREB1	chr19:19313798-19314472	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:19313471-19314469	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr19:19313356-19314514	HCT-116	colon:	n/a	n/a
46	POLR2A	chr19:19312334-19314449	K562	blood:	n/a	n/a
47	MAX	chr19:19313681-19314529	SK-N-SH	brain:	n/a	chr19:19314219-19314226
48	MAX	chr19:19313733-19314482	SK-N-SH	brain:	n/a	chr19:19314219-19314226
49	POLR2A	chr19:19313160-19314444	GM12892	blood:	n/a	n/a
50	HEY1	chr19:19313469-19314366	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19312779..19319489-chr19:19322201..19327588,8	K562	blood:
2	chr19:19302224..19305333-chr19:19312708..19315616,6	MCF-7	breast:
3	chr19:19300955..19305521-chr19:19311679..19315747,10	MCF-7	breast:
4	chr19:12902470..12904753-chr19:19312649..19315293,2	MCF-7	breast:
5	chr19:19307070..19310712-chr19:19311051..19314432,7	MCF-7	breast:
6	chr19:19312433..19314874-chr19:19432298..19433867,2	MCF-7	breast:
7	chr19:19307535..19311874-chr19:19311949..19315894,9	MCF-7	breast:
8	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
9	chr19:19312772..19314396-chr19:19430027..19431719,3	MCF-7	breast:
10	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:

Variant related genes	Relation type
NR2C2AP	TF binding region
ENSG00000105705	Chromatin interaction
ENSG00000130287	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000095066	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000064489	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8112004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 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	chr19:19312400-19314000	Flanking Active TSS	Hela-S3	cervix
2	chr19:19312800-19314000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19312800-19314000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:19313000-19314000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:19313000-19314000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr19:19313000-19314000	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr19:19313000-19314000	Flanking Active TSS	Fetal Brain Female	brain
8	chr19:19313000-19314000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr19:19313000-19314000	Flanking Active TSS	HMEC	breast
10	chr19:19313000-19314200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:19313000-19314200	Flanking Active TSS	HUVEC	blood vessel
12	chr19:19313000-19314600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:19313000-19314800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:19313200-19314000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:19313200-19314000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:19313200-19314000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:19313200-19314000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr19:19313200-19314000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:19313200-19314000	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr19:19313200-19314000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr19:19313200-19314000	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr19:19313200-19314000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr19:19313200-19314000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr19:19313200-19314000	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr19:19313200-19314000	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr19:19313200-19314000	Flanking Active TSS	Gastric	stomach
27	chr19:19313200-19314000	Flanking Active TSS	Pancreas	Pancrea
28	chr19:19313200-19314000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr19:19313200-19314000	Flanking Active TSS	Right Ventricle	heart
30	chr19:19313200-19314000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
31	chr19:19313200-19314200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:19313200-19314200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr19:19313200-19314200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:19313200-19314200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr19:19313200-19314200	Flanking Active TSS	Placenta	Placenta
36	chr19:19313200-19314200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr19:19313200-19314200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr19:19313200-19314200	Flanking Active TSS	NH-A	brain
39	chr19:19313200-19314200	Flanking Active TSS	Osteobl	bone
40	chr19:19313200-19314400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr19:19313200-19314400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:19313200-19314600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr19:19313200-19314600	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr19:19313400-19314000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:19313400-19314000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:19313400-19314000	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr19:19313400-19314000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr19:19313400-19314000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr19:19313400-19314000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr19:19313400-19314000	Flanking Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links