Variant report

Variant	rs7364164
Chromosome Location	chr22:32149268-32149269
allele	A/G
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	chr22:32148695-32150379	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr22:32148978-32150392	MCF-7	breast:	n/a	n/a
3	POLR2A	chr22:32148852-32150319	K562	blood:	n/a	n/a
4	EP300	chr22:32148928-32150654	K562	blood:	n/a	chr22:32149620-32149629 chr22:32149621-32149630
5	POLR2A	chr22:32148952-32150367	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr22:32148929-32149341	HepG2	liver:	n/a	n/a
7	POLR2A	chr22:32148845-32150274	SK-N-SH	brain:	n/a	n/a
8	EGR1	chr22:32149080-32150514	HCT-116	colon:	n/a	chr22:32150053-32150066 chr22:32150054-32150065 chr22:32149911-32149924 chr22:32149839-32149852 chr22:32149919-32149932 chr22:32149930-32149943 chr22:32149863-32149872 chr22:32149911-32149924 chr22:32149837-32149847 chr22:32149920-32149934 chr22:32150053-32150067 chr22:32149098-32149108 chr22:32149935-32149945
9	HEY1	chr22:32148759-32150308	HepG2	liver:	n/a	chr22:32149909-32149924 chr22:32149900-32149915 chr22:32149837-32149852
10	POLR2A	chr22:32148878-32150475	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr22:32148882-32150300	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr22:32148895-32150423	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr22:32148691-32150979	GM12891	blood:	n/a	n/a
14	POLR2A	chr22:32148895-32150530	HUVEC	blood vessel:	n/a	n/a
15	HCFC1	chr22:32148959-32150447	K562	blood:	n/a	n/a
16	POLR2A	chr22:32149106-32150434	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr22:32148795-32150315	HCT-116	colon:	n/a	n/a
18	MAZ	chr22:32149253-32150584	IMR90	lung:	n/a	chr22:32149621-32149630 chr22:32149620-32149629
19	POLR2A	chr22:32148794-32150619	GM12892	blood:	n/a	n/a
20	MYC	chr22:32149005-32150199	K562	blood:	n/a	chr22:32149621-32149630 chr22:32149620-32149629
21	POLR2A	chr22:32148924-32149877	U87	brain:	n/a	n/a
22	POLR2A	chr22:32148889-32150444	GM15510	blood:	n/a	n/a
23	POLR2A	chr22:32148925-32150508	GM12891	blood:	n/a	n/a
24	POLR2A	chr22:32148853-32150324	K562	blood:	n/a	n/a
25	POLR2A	chr22:32149182-32150454	GM12878	blood:	n/a	n/a
26	MYC	chr22:32148914-32150475	NB4	blood:	n/a	chr22:32149621-32149630 chr22:32149620-32149629
27	YY1	chr22:32149211-32149933	H1-hESC	embryonic stem cell:	n/a	chr22:32149836-32149850 chr22:32149838-32149847
28	MAX	chr22:32149120-32150006	H1-hESC	embryonic stem cell:	n/a	chr22:32149621-32149630 chr22:32149620-32149629
29	POLR2A	chr22:32148798-32150681	GM12892	blood:	n/a	n/a
30	KAP1	chr22:32148707-32150433	U2OS	brain:	n/a	chr22:32149622-32149631
31	HEY1	chr22:32148896-32150270	K562	blood:	n/a	chr22:32149909-32149924 chr22:32149900-32149915 chr22:32149837-32149852
32	TAL1	chr22:32148916-32149393	K562	blood:	n/a	n/a
33	PML	chr22:32149141-32150564	GM12878	blood:	n/a	chr22:32149622-32149631
34	MAX	chr22:32148883-32150755	NB4	blood:	n/a	chr22:32149621-32149630 chr22:32149620-32149629
35	POLR2A	chr22:32149051-32150485	H1-neurons	neurons:	n/a	n/a
36	MYC	chr22:32149030-32150205	K562	blood:	n/a	chr22:32149621-32149630 chr22:32149620-32149629
37	ESRRA	chr22:32148093-32151618	GM12878	blood:	n/a	n/a
38	POLR2A	chr22:32148852-32150690	GM18505	blood:	n/a	n/a
39	POLR2A	chr22:32148859-32150501	K562	blood:	n/a	n/a
40	WRNIP1	chr22:32149222-32149809	GM12878	blood:	n/a	n/a
41	TAF1	chr22:32149254-32150110	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr22:32148956-32149326	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr22:32148897-32150737	GM19099	blood:	n/a	n/a
44	MAX	chr22:32149067-32150586	GM12878	blood:	n/a	chr22:32149621-32149630 chr22:32149620-32149629
45	POLR2A	chr22:32148621-32150642	GM12878	blood:	n/a	n/a
46	POLR2A	chr22:32148230-32150614	NB4	blood:	n/a	n/a
47	CHD2	chr22:32149138-32150433	K562	blood:	n/a	chr22:32150161-32150171 chr22:32149836-32149846
48	POLR2A	chr22:32148858-32150447	HCT-116	colon:	n/a	n/a
49	POLR2A	chr22:32148240-32150834	HepG2	liver:	n/a	n/a
50	CEBPB	chr22:32149148-32149806	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:32025067..32026955-chr22:32148287..32151224,2	K562	blood:
2	chr22:31884599..31887538-chr22:32147471..32150641,3	K562	blood:
3	chr22:32146377..32149751-chr22:32262350..32266440,4	K562	blood:
4	chr22:32149125..32149868-chr4:100009384..100010241,2	NB4	blood:
5	chr22:31892308..31894120-chr22:32146815..32149656,2	MCF-7	breast:
6	chr17:73150134..73150758-chr22:32149265..32150184,2	Hela-S3	cervix:
7	chr22:31885118..31887084-chr22:32148124..32150324,2	MCF-7	breast:
8	chr19:36545766..36546287-chr22:32148869..32149590,2	Hela-S3	cervix:
9	chr22:31363553..31366522-chr22:32148342..32151239,2	K562	blood:
10	chr22:32071515..32074339-chr22:32147915..32149752,2	MCF-7	breast:
11	chr18:47340433..47341002-chr22:32148919..32149735,2	Hela-S3	cervix:
12	chr22:32148601..32151339-chr22:32339160..32341973,3	MCF-7	breast:
13	chr22:32148473..32152307-chr22:32339145..32342092,6	K562	blood:
14	chr22:32059940..32062167-chr22:32148012..32149748,2	MCF-7	breast:
15	chr1:234746127..234746772-chr22:32149248..32149893,2	HCT-116	colon:
16	chr22:32149264..32152111-chr22:32339608..32342388,3	MCF-7	breast:
17	chr22:32146663..32149554-chr22:32153281..32156141,2	K562	blood:
18	chr22:32147800..32152307-chr22:32338859..32342135,7	K562	blood:
19	chr22:32148290..32149884-chr6:133135797..133138558,2	MCF-7	breast:
20	chr22:32148657..32151429-chr22:32161601..32165600,4	MCF-7	breast:

Variant related genes	Relation type
RN7SL20P	TF binding region
PRR14L	TF binding region
DEPDC5	TF binding region
ENSG00000197894	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000252139	Chromatin interaction
ENSG00000221500	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000251992	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000200534	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12158709	1.00[LWK][hapmap]
rs12158711	1.00[LWK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060929	chr22:32102701-32176860	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32148400-32149400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:32148600-32149400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:32148600-32149400	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr22:32148600-32149400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:32148600-32149600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr22:32148600-32149600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:32148600-32149600	Flanking Active TSS	Fetal Kidney	kidney
8	chr22:32148600-32149600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr22:32148600-32149800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr22:32148600-32149800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:32148600-32149800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:32148800-32149400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr22:32148800-32149400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr22:32148800-32149400	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr22:32148800-32149400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr22:32148800-32149600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr22:32148800-32149600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr22:32148800-32149600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr22:32148800-32149600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr22:32148800-32149600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:32148800-32149600	Flanking Active TSS	Fetal Heart	heart
22	chr22:32148800-32149600	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr22:32148800-32149600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr22:32148800-32149600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr22:32148800-32149600	Flanking Active TSS	K562	blood
26	chr22:32148800-32149800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr22:32148800-32149800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:32148800-32149800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:32148800-32150800	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr22:32149000-32149400	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr22:32149000-32149400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr22:32149000-32149400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr22:32149000-32149400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr22:32149000-32149400	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr22:32149000-32149400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr22:32149000-32149400	Flanking Active TSS	Fetal Brain Female	brain
37	chr22:32149000-32149400	Flanking Active TSS	Left Ventricle	heart
38	chr22:32149000-32149400	Flanking Active TSS	Lung	lung
39	chr22:32149000-32149400	Enhancers	Ovary	ovary
40	chr22:32149000-32149400	Flanking Active TSS	Right Atrium	heart
41	chr22:32149000-32149400	Flanking Active TSS	Thymus	Thymus
42	chr22:32149000-32149400	Flanking Active TSS	Spleen	Spleen
43	chr22:32149000-32149600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr22:32149000-32149600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr22:32149000-32149600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr22:32149000-32149600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr22:32149000-32149600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr22:32149000-32149600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:32149000-32149600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:32149000-32149600	Flanking Active TSS	Adipose Nuclei	Adipose

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