Variant report

Variant	rs7648198
Chromosome Location	chr3:136671761-136671762
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	POLR2A	chr3:136671134-136671872	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:136670286..136672672-chr3:136673441..136676045,3	K562	blood:
2	chr3:136670696..136673372-chr3:136678994..136680976,2	K562	blood:
3	chr3:136670796..136672304-chr3:136673206..136674953,2	MCF-7	breast:
4	chr3:136578093..136582643-chr3:136670368..136673498,4	K562	blood:

Variant related genes	Relation type
IL20RB	TF binding region
ENSG00000158092	Chromatin interaction
ENSG00000239213	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10804645	0.85[ASN][1000 genomes]
rs108858	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs11711599	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap]
rs11717974	0.82[ASN][1000 genomes]
rs12054220	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap]
rs12629000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13077864	0.90[ASN][1000 genomes]
rs13095028	0.90[CHD][hapmap]
rs1406539	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16844241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs171519	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap]
rs1965107	0.94[ASN][1000 genomes]
rs2176270	0.90[ASN][1000 genomes]
rs361232	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs361233	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs361235	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs361238	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs361240	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap]
rs361253	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap]
rs4678271	0.86[ASN][1000 genomes]
rs4678275	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4678447	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs62410363	0.86[ASN][1000 genomes]
rs62410438	0.90[ASN][1000 genomes]
rs71630059	0.90[ASN][1000 genomes]
rs7610507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7631541	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs835636	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs835637	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs835649	0.81[AMR][1000 genomes]
rs835652	0.86[CHB][hapmap]
rs9682783	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs9845076	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs9845460	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7648198	SPSB4	cis	cerebellum	SCAN
rs7648198	PCCB	cis	cerebellum	SCAN
rs7648198	IL20RB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136646600-136673800	Weak transcription	Pancreas	Pancrea
2	chr3:136648600-136673800	Weak transcription	Fetal Intestine Small	intestine
3	chr3:136656400-136681400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:136657400-136673200	Weak transcription	NH-A	brain
5	chr3:136658600-136679400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:136661800-136672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:136661800-136673800	Weak transcription	Right Atrium	heart
8	chr3:136662000-136672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:136662000-136673800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:136662000-136676600	Weak transcription	Psoas Muscle	Psoas
11	chr3:136662400-136675200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:136662600-136673600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:136662600-136673600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:136662600-136673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:136662600-136676400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:136662800-136673800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:136662800-136674000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:136662800-136674000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:136662800-136678800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:136665000-136673200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:136665000-136673200	Weak transcription	Esophagus	oesophagus
22	chr3:136665000-136674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:136665200-136673000	Weak transcription	Gastric	stomach
24	chr3:136665200-136673200	Weak transcription	Lung	lung
25	chr3:136665200-136673200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:136665200-136673200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:136665200-136673200	Weak transcription	Thymus	Thymus
28	chr3:136665200-136673600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:136665200-136673800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:136665200-136673800	Weak transcription	Osteobl	bone
31	chr3:136665200-136674000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:136665200-136676000	Weak transcription	Fetal Lung	lung
33	chr3:136665200-136676800	Weak transcription	Aorta	Aorta
34	chr3:136665200-136680200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:136665400-136672600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:136665400-136673200	Weak transcription	Adipose Nuclei	Adipose
37	chr3:136665400-136673400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:136665400-136673600	Weak transcription	Placenta	Placenta
39	chr3:136665400-136673800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:136665400-136673800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:136665400-136674200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:136665400-136679000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:136665400-136680200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr3:136665400-136680200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:136665600-136673000	Weak transcription	Liver	Liver
46	chr3:136665600-136673600	Weak transcription	Fetal Intestine Large	intestine
47	chr3:136665600-136673800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:136665600-136673800	Weak transcription	Stomach Mucosa	stomach
49	chr3:136665600-136674000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:136665600-136674000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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