Variant report

Variant	rs8100682
Chromosome Location	chr19:44439937-44439938
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	chr19:44439033-44440063	HepG2	liver:	n/a	n/a
2	TAF1	chr19:44439022-44439963	H1-hESC	embryonic stem cell:	n/a	n/a
3	GABPA	chr19:44438817-44440161	A549	lung:	n/a	chr19:44439497-44439506
4	MAX	chr19:44439217-44439941	GM12878	blood:	n/a	n/a
5	CTCF	chr19:44439882-44439937	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:44438976-44439945	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr19:44438968-44439972	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr19:44438957-44439988	GM12891	blood:	n/a	n/a
9	GATA3	chr19:44438899-44440131	A549	lung:	n/a	chr19:44439290-44439300
10	SREBP1	chr19:44438244-44440460	GM12878	blood:	n/a	n/a
11	MAX	chr19:44439118-44439949	ECC-1	luminal epithelium:	n/a	n/a
12	SIX5	chr19:44438825-44440079	A549	lung:	n/a	chr19:44439458-44439467 chr19:44439456-44439465 chr19:44439454-44439468
13	ETS1	chr19:44438724-44440014	A549	lung:	n/a	chr19:44439422-44439431 chr19:44439510-44439520 chr19:44439707-44439720 chr19:44439497-44439508 chr19:44439509-44439518 chr19:44439415-44439431 chr19:44439455-44439468 chr19:44439422-44439433 chr19:44439509-44439520 chr19:44439520-44439533 chr19:44439423-44439433 chr19:44439454-44439467 chr19:44439483-44439490
14	GABPA	chr19:44439115-44439968	HL-60	blood:	n/a	chr19:44439497-44439506
15	SIN3A	chr19:44439014-44439941	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr19:44438896-44439973	MCF-7	breast:	n/a	n/a
17	E2F4	chr19:44438979-44439952	MCF10A-Er-Src	breast:	n/a	chr19:44439741-44439753 chr19:44439497-44439506
18	HA-E2F1	chr19:44439007-44439985	MCF-7	breast:	n/a	chr19:44439741-44439753 chr19:44439497-44439506
19	E2F6	chr19:44439093-44440076	A549	lung:	n/a	chr19:44439741-44439753 chr19:44439497-44439506
20	GABPA	chr19:44438880-44440042	SK-N-SH	brain:	n/a	chr19:44439497-44439506
21	POLR2A	chr19:44438920-44439938	PFSK-1	brain:	n/a	n/a
22	GABPA	chr19:44439008-44439994	SK-N-SH	brain:	n/a	chr19:44439497-44439506
23	BCL3	chr19:44438949-44439952	A549	lung:	n/a	chr19:44439269-44439278 chr19:44439509-44439518 chr19:44439485-44439498
24	E2F6	chr19:44439272-44439968	A549	lung:	n/a	chr19:44439741-44439753 chr19:44439497-44439506
25	ELF1	chr19:44438974-44440010	HCT-116	colon:	n/a	chr19:44439418-44439431 chr19:44439263-44439275
26	GATA1	chr19:44439843-44440696	PBDE	blood:	n/a	chr19:44440390-44440401
27	BHLHE40	chr19:44439047-44439944	K562	blood:	n/a	n/a
28	GABPA	chr19:44439005-44439974	MCF-7	breast:	n/a	chr19:44439497-44439506
29	HCFC1	chr19:44438175-44440337	Hela-S3	cervix:	n/a	n/a
30	MAX	chr19:44438942-44439962	SK-N-SH	brain:	n/a	n/a
31	TCF12	chr19:44438832-44440084	A549	lung:	n/a	n/a
32	EBF1	chr19:44439052-44440080	GM12878	blood:	n/a	chr19:44439557-44439568 chr19:44439645-44439655 chr19:44439647-44439656
33	GABPA	chr19:44438610-44440292	MCF-7	breast:	n/a	chr19:44439497-44439506
34	RELA	chr19:44439226-44440018	GM19099	blood:	n/a	n/a
35	MAX	chr19:44438892-44439968	A549	lung:	n/a	n/a
36	ELF1	chr19:44439110-44439992	SK-N-SH	brain:	n/a	chr19:44439418-44439431 chr19:44439263-44439275
37	GABPA	chr19:44439016-44440004	HL-60	blood:	n/a	chr19:44439497-44439506
38	MXI1	chr19:44438475-44440059	IMR90	lung:	n/a	n/a
39	MAZ	chr19:44438977-44439973	IMR90	lung:	n/a	n/a
40	MAX	chr19:44438878-44440056	A549	lung:	n/a	n/a
41	ELF1	chr19:44439090-44439957	HCT-116	colon:	n/a	chr19:44439418-44439431 chr19:44439263-44439275
42	MAX	chr19:44439147-44439973	ECC-1	luminal epithelium:	n/a	n/a
43	TBP	chr19:44439304-44439957	GM12878	blood:	n/a	n/a
44	JUND	chr19:44439199-44439939	H1-hESC	embryonic stem cell:	n/a	chr19:44439761-44439773 chr19:44439368-44439379 chr19:44439565-44439574
45	REST	chr19:44438850-44440009	H1-neurons	neurons:	n/a	n/a
46	E2F4	chr19:44439340-44439963	Hela-S3	cervix:	n/a	chr19:44439741-44439753 chr19:44439497-44439506
47	POLR2A	chr19:44439063-44439940	U87	brain:	n/a	n/a
48	TBL1XR1	chr19:44439370-44439959	GM12878	blood:	n/a	n/a
49	RELA	chr19:44439077-44439945	GM15510	blood:	n/a	n/a
50	GABPA	chr19:44438860-44439962	A549	lung:	n/a	chr19:44439497-44439506

No.	Distal block	Cell Line	Cell type
1	chr19:44439254..44441098-chr19:44452141..44456291,4	K562	blood:
2	chr19:44405165..44406844-chr19:44438913..44440753,2	K562	blood:
3	chr19:44330249..44332710-chr19:44437495..44440338,2	MCF-7	breast:
4	chr19:44438985..44440520-chr19:44510451..44513064,2	MCF-7	breast:
5	chr19:44330466..44332260-chr19:44438054..44440025,2	K562	blood:

Variant related genes	Relation type
ZNF45	TF binding region
ENSG00000159871	Chromatin interaction
ENSG00000159905	Chromatin interaction
ENSG00000176222	Chromatin interaction
ENSG00000167637	Chromatin interaction
ENSG00000267058	Chromatin interaction
ENSG00000267191	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10853770	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880216	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11881642	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11882181	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55736013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55810332	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58050657	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62116589	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8100011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44438000-44440000	Active TSS	GM12878-XiMat	blood
2	chr19:44438000-44440000	Active TSS	NHLF	lung
3	chr19:44438200-44440000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:44438200-44440200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr19:44438200-44440200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:44438200-44440200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:44438200-44440200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:44438200-44440200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr19:44438200-44440200	Active TSS	Psoas Muscle	Psoas
10	chr19:44438200-44440600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:44438400-44440000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:44438400-44440000	Active TSS	Right Atrium	heart
13	chr19:44438400-44440000	Active TSS	Right Ventricle	heart
14	chr19:44438400-44440200	Active TSS	Fetal Intestine Small	intestine
15	chr19:44438600-44440000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr19:44438600-44440000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr19:44438600-44440000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:44438600-44440000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:44438600-44440000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:44438600-44440000	Active TSS	Aorta	Aorta
21	chr19:44438600-44440000	Active TSS	Fetal Brain Female	brain
22	chr19:44438600-44440000	Active TSS	NHDF-Ad	bronchial
23	chr19:44438600-44440200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr19:44438600-44440600	Active TSS	Thymus	Thymus
25	chr19:44438800-44440000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:44438800-44440000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:44438800-44440000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:44438800-44440000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr19:44438800-44440000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr19:44438800-44440000	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr19:44438800-44440000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:44438800-44440000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:44438800-44440000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:44438800-44440000	Active TSS	Brain Angular Gyrus	brain
35	chr19:44438800-44440000	Active TSS	Brain Cingulate Gyrus	brain
36	chr19:44438800-44440000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr19:44438800-44440000	Active TSS	Brain Substantia Nigra	brain
38	chr19:44438800-44440000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr19:44438800-44440000	Active TSS	Esophagus	oesophagus
40	chr19:44438800-44440000	Active TSS	Fetal Brain Male	brain
41	chr19:44438800-44440000	Active TSS	Fetal Intestine Large	intestine
42	chr19:44438800-44440000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr19:44438800-44440000	Active TSS	Fetal Lung	lung
44	chr19:44438800-44440000	Active TSS	Fetal Muscle Trunk	muscle
45	chr19:44438800-44440000	Active TSS	Fetal Muscle Leg	muscle
46	chr19:44438800-44440000	Active TSS	Left Ventricle	heart
47	chr19:44438800-44440000	Active TSS	Ovary	ovary
48	chr19:44438800-44440000	Active TSS	Rectal Smooth Muscle	rectum
49	chr19:44438800-44440000	Active TSS	Small Intestine	intestine
50	chr19:44438800-44440000	Active TSS	Stomach Mucosa	stomach

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