Variant report

Variant	rs16978921
Chromosome Location	chr19:44808439-44808440
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	chr19:44808437-44809549	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr19:44808300-44808450	AG10803	skin:	n/a	n/a
3	TBP	chr19:44808288-44809487	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr19:44808231-44809594	A549	lung:	n/a	chr19:44809113-44809120
5	JUN	chr19:44808253-44809498	K562	blood:	n/a	chr19:44809113-44809125 chr19:44808948-44808957 chr19:44809115-44809123 chr19:44809114-44809124
6	SMC3	chr19:44808406-44808572	GM12878	blood:	n/a	n/a
7	CTCF	chr19:44808400-44808550	HMF	breast:	n/a	n/a
8	MAX	chr19:44808377-44809590	A549	lung:	n/a	chr19:44809066-44809075
9	EP300	chr19:44808364-44808614	SK-N-SH_RA	brain:	n/a	n/a
10	RAD21	chr19:44808385-44808675	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr19:44808400-44808550	AoAF	blood vessel:	n/a	n/a
12	MXI1	chr19:44808101-44809461	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:44808361-44808588	ProgFib	skin:	n/a	n/a
14	REST	chr19:44808419-44808681	SK-N-SH	brain:	n/a	chr19:44808624-44808633
15	KAP1	chr19:44808303-44809363	HEK293	kidney:	n/a	chr19:44809028-44809036
16	REST	chr19:44808407-44809488	A549	lung:	n/a	chr19:44808624-44808633 chr19:44809270-44809283
17	CTCF	chr19:44808420-44808570	HPAF	blood vessel:	n/a	n/a
18	RUNX3	chr19:44808169-44808625	GM12878	blood:	n/a	n/a
19	GATA2	chr19:44808301-44809341	SH-SY5Y	brain:	n/a	chr19:44809113-44809120
20	SIN3AK20	chr19:44808338-44809640	MCF-7	breast:	n/a	n/a
21	GATA3	chr19:44808296-44808830	SH-SY5Y	brain:	n/a	n/a
22	HCFC1	chr19:44807956-44809883	Hela-S3	cervix:	n/a	n/a
23	EP300	chr19:44808231-44808644	SK-N-SH_RA	brain:	n/a	n/a
24	GATA3	chr19:44808314-44808657	T-47D	breast:	n/a	n/a
25	GATA1	chr19:44808348-44809424	PBDE	blood:	n/a	chr19:44809113-44809120
26	POLR2A	chr19:44808320-44809504	SK-N-SH	brain:	n/a	n/a
27	SMC3	chr19:44808420-44809349	Hela-S3	cervix:	n/a	n/a
28	KAP1	chr19:44808390-44809622	U2OS	brain:	n/a	chr19:44809028-44809036
29	REST	chr19:44808391-44808597	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44762662..44765169-chr19:44806024..44808707,2	K562	blood:
2	chr19:44711481..44713542-chr19:44808275..44810056,2	K562	blood:
3	chr19:44619122..44621530-chr19:44807585..44810251,2	K562	blood:
4	chr19:44763689..44765733-chr19:44807177..44810075,2	MCF-7	breast:

Variant related genes	Relation type
ZNF235	TF binding region
ENSG00000256294	Chromatin interaction
ENSG00000131115	Chromatin interaction
ENSG00000159915	Chromatin interaction

rs_ID	r²[population]
rs10401758	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10405091	1.00[EUR][1000 genomes]
rs10406980	1.00[CEU][hapmap]
rs10409423	0.89[EUR][1000 genomes]
rs10409643	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10409954	1.00[CEU][hapmap]
rs10410532	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10411499	1.00[EUR][1000 genomes]
rs10415196	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10415563	1.00[CEU][hapmap]
rs10416493	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10418460	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10422609	1.00[CEU][hapmap]
rs10424371	1.00[CEU][hapmap]
rs11881753	1.00[EUR][1000 genomes]
rs12104331	1.00[EUR][1000 genomes]
rs12104332	1.00[EUR][1000 genomes]
rs1584	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16959114	1.00[CEU][hapmap]
rs16978882	0.87[YRI][hapmap]
rs16978910	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16978912	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2232803	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28485815	1.00[EUR][1000 genomes]
rs28671410	0.89[EUR][1000 genomes]
rs4803685	1.00[CEU][hapmap]
rs4803686	1.00[CEU][hapmap]
rs4803688	1.00[CEU][hapmap]
rs57176078	1.00[EUR][1000 genomes]
rs57706678	1.00[EUR][1000 genomes]
rs58216091	1.00[EUR][1000 genomes]
rs6509147	1.00[CEU][hapmap]
rs7250439	1.00[CEU][hapmap]
rs7253796	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7255445	0.89[EUR][1000 genomes]
rs7257833	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs73567997	0.89[EUR][1000 genomes]
rs73934602	1.00[EUR][1000 genomes]
rs73937513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111388	1.00[CEU][hapmap]
rs922063	1.00[CEU][hapmap]
rs9749373	0.89[EUR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44804400-44808600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:44804400-44808600	Weak transcription	Spleen	Spleen
3	chr19:44807400-44808600	Enhancers	Small Intestine	intestine
4	chr19:44807400-44809800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:44807600-44808600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:44807600-44808600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr19:44807600-44808600	Flanking Active TSS	Fetal Lung	lung
8	chr19:44807600-44808600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr19:44807600-44808800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:44807600-44809200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:44807600-44809600	Active TSS	A549	lung
12	chr19:44807600-44809800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr19:44807600-44809800	Active TSS	Psoas Muscle	Psoas
14	chr19:44807600-44810600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr19:44807800-44808600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr19:44807800-44808600	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr19:44807800-44808600	Flanking Active TSS	Dnd41	blood
18	chr19:44807800-44808800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr19:44807800-44808800	Flanking Active TSS	Liver	Liver
20	chr19:44807800-44809600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr19:44807800-44809800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:44808000-44808600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:44808000-44808600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr19:44808000-44808800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr19:44808000-44808800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:44808000-44808800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr19:44808000-44809000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr19:44808000-44809000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:44808000-44809600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:44808000-44809600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:44808000-44809600	Active TSS	Colon Smooth Muscle	Colon
32	chr19:44808000-44809800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr19:44808000-44809800	Active TSS	H1 Cell Line	embryonic stem cell
34	chr19:44808000-44809800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:44808000-44810200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:44808200-44808600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr19:44808200-44808600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr19:44808200-44808600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:44808200-44808600	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr19:44808200-44808600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr19:44808200-44808600	Flanking Active TSS	Fetal Heart	heart
42	chr19:44808200-44808600	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr19:44808200-44808600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr19:44808200-44808800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr19:44808200-44809000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr19:44808200-44809200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr19:44808200-44809400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:44808200-44809400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:44808200-44809400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:44808200-44809400	Active TSS	NHEK	skin

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