Variant report

Variant	rs1805847
Chromosome Location	chr8:90997181-90997182
allele	A/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	CTCF	chr8:90996113-90997278	HCT-116	colon:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
2	TEAD4	chr8:90995861-90997187	K562	blood:	n/a	n/a
3	POLR2A	chr8:90993272-90997595	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:90995392-90997299	GM19099	blood:	n/a	n/a
5	CTCF	chr8:90995855-90997305	MCF-7	breast:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
6	MAX	chr8:90996022-90997203	HepG2	liver:	n/a	chr8:90996485-90996495
7	RAD21	chr8:90996047-90997292	A549	lung:	n/a	chr8:90996520-90996539 chr8:90996525-90996535 chr8:90996525-90996537 chr8:90996523-90996536 chr8:90996960-90996969 chr8:90996951-90996970 chr8:90996954-90996967 chr8:90996955-90996965 chr8:90996521-90996535
8	NFIC	chr8:90995703-90997185	GM12878	blood:	n/a	chr8:90996069-90996097 chr8:90996129-90996145
9	MXI1	chr8:90995560-90997553	IMR90	lung:	n/a	n/a
10	TBP	chr8:90994830-90997193	GM12878	blood:	n/a	n/a
11	RAD21	chr8:90996170-90997196	H1-hESC	embryonic stem cell:	n/a	chr8:90996520-90996539 chr8:90996525-90996535 chr8:90996525-90996537 chr8:90996523-90996536 chr8:90996960-90996969 chr8:90996951-90996970 chr8:90996954-90996967 chr8:90996955-90996965 chr8:90996521-90996535
12	POLR2A	chr8:90993336-90997456	MCF10A-Er-Src	breast:	n/a	n/a
13	RAD21	chr8:90995880-90997361	HCT-116	colon:	n/a	chr8:90996520-90996539 chr8:90996525-90996535 chr8:90996525-90996537 chr8:90996523-90996536 chr8:90996960-90996969 chr8:90996951-90996970 chr8:90996954-90996967 chr8:90996955-90996965 chr8:90996521-90996535
14	SMC3	chr8:90995741-90997774	SK-N-SH	brain:	n/a	chr8:90996521-90996528 chr8:90996955-90996969 chr8:90996955-90996965 chr8:90996961-90996969 chr8:90996521-90996535 chr8:90996525-90996535
15	JUND	chr8:90995796-90997206	K562	blood:	n/a	n/a
16	SIN3AK20	chr8:90995469-90997272	MCF-7	breast:	n/a	n/a
17	SMC3	chr8:90995964-90997409	GM12878	blood:	n/a	chr8:90996521-90996528 chr8:90996955-90996969 chr8:90996955-90996965 chr8:90996961-90996969 chr8:90996521-90996535 chr8:90996525-90996535
18	POLR2A	chr8:90996016-90997209	HepG2	liver:	n/a	n/a
19	RFX5	chr8:90996103-90997192	GM12878	blood:	n/a	n/a
20	HCFC1	chr8:90995649-90997726	Hela-S3	cervix:	n/a	n/a
21	ELF1	chr8:90995860-90997250	MCF-7	breast:	n/a	n/a
22	MAZ	chr8:90995817-90997206	IMR90	lung:	n/a	chr8:90996485-90996495
23	NFIC	chr8:90996118-90997197	ECC-1	luminal epithelium:	n/a	chr8:90996129-90996145
24	CTCF	chr8:90996167-90997268	IMR90	lung:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
25	CEBPB	chr8:90995828-90997208	A549	lung:	n/a	n/a
26	POLR2A	chr8:90996250-90997183	MCF-7	breast:	n/a	n/a
27	ATF2	chr8:90995909-90997242	GM12878	blood:	n/a	n/a
28	JUN	chr8:90996802-90997183	H1-hESC	embryonic stem cell:	n/a	n/a
29	TBL1XR1	chr8:90995671-90997188	GM12878	blood:	n/a	n/a
30	BHLHE40	chr8:90995683-90997405	K562	blood:	n/a	n/a
31	BHLHE40	chr8:90995749-90997182	GM12878	blood:	n/a	n/a
32	GATA3	chr8:90995383-90997338	MCF-7	breast:	n/a	chr8:90997227-90997237 chr8:90997222-90997238 chr8:90995983-90995996 chr8:90997225-90997235 chr8:90995994-90996006 chr8:90997227-90997234
33	HA-E2F1	chr8:90995467-90997230	MCF-7	breast:	n/a	chr8:90996079-90996089 chr8:90996079-90996090 chr8:90996080-90996087
34	MAX	chr8:90995947-90997198	ECC-1	luminal epithelium:	n/a	chr8:90996485-90996495
35	SRF	chr8:90995906-90997215	MCF-7	breast:	n/a	n/a
36	CBX3	chr8:90995899-90997282	HCT-116	colon:	n/a	n/a
37	SP1	chr8:90996060-90997210	A549	lung:	n/a	chr8:90996499-90996511 chr8:90996481-90996495 chr8:90996500-90996509 chr8:90996501-90996510 chr8:90996499-90996511
38	ZNF143	chr8:90995968-90997417	K562	blood:	n/a	chr8:90996480-90996498 chr8:90996546-90996556
39	RAD21	chr8:90995818-90997257	MCF-7	breast:	n/a	chr8:90996520-90996539 chr8:90996525-90996535 chr8:90996525-90996537 chr8:90996523-90996536 chr8:90996960-90996969 chr8:90996951-90996970 chr8:90996954-90996967 chr8:90996955-90996965 chr8:90996521-90996535
40	GATA3	chr8:90995520-90997240	SK-N-SH	brain:	n/a	chr8:90997227-90997237 chr8:90997222-90997238 chr8:90995983-90995996 chr8:90997225-90997235 chr8:90995994-90996006 chr8:90997227-90997234
41	POLR2A	chr8:90996029-90997201	HUVEC	blood vessel:	n/a	n/a
42	MAX	chr8:90995800-90997219	A549	lung:	n/a	chr8:90996485-90996495
43	RFX5	chr8:90995786-90997327	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr8:90995670-90997383	SK-N-SH	brain:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
45	REST	chr8:90995978-90997248	H1-neurons	neurons:	n/a	n/a
46	RAD21	chr8:90995608-90997299	SK-N-SH	brain:	n/a	chr8:90996520-90996539 chr8:90996525-90996535 chr8:90996525-90996537 chr8:90996523-90996536 chr8:90996960-90996969 chr8:90996951-90996970 chr8:90996954-90996967 chr8:90996955-90996965 chr8:90996521-90996535
47	MAX	chr8:90995649-90997219	A549	lung:	n/a	chr8:90996485-90996495
48	NR2F2	chr8:90995668-90997224	MCF-7	breast:	n/a	n/a
49	GABPA	chr8:90995897-90997201	MCF-7	breast:	n/a	n/a
50	MXI1	chr8:90993378-90997577	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
2	chr8:90788699..90792573-chr8:90996217..90998925,4	MCF-7	breast:
3	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
4	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
5	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
6	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
7	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
8	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
9	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
10	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
11	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
12	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:
13	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:
14	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
15	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
16	chr8:90996289..90998136-chr8:91010778..91015164,5	K562	blood:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12541460	0.83[YRI][hapmap]
rs1805872	0.83[YRI][hapmap]

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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90991600-90997200	Active TSS	GM12878-XiMat	blood
2	chr8:90993200-90997200	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:90993400-90997200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:90993800-90997200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:90993800-90997600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:90994600-90997200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:90994600-90997200	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:90994600-90997600	Active TSS	Brain Substantia Nigra	brain
9	chr8:90994800-90997200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:90994800-90997200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr8:90994800-90997200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:90994800-90997200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:90994800-90997400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:90994800-90997400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:90994800-90997400	Active TSS	K562	blood
16	chr8:90995000-90997200	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr8:90995200-90997200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr8:90995200-90997200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:90995200-90997200	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:90995200-90997200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:90995200-90997200	Active TSS	NH-A	brain
22	chr8:90995200-90997200	Active TSS	NHDF-Ad	bronchial
23	chr8:90995400-90997200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr8:90995400-90997200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:90995400-90997200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:90995400-90997200	Active TSS	Fetal Kidney	kidney
27	chr8:90995400-90997200	Active TSS	Thymus	Thymus
28	chr8:90995400-90997200	Active TSS	NHEK	skin
29	chr8:90995600-90997200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:90995600-90997200	Active TSS	Brain Germinal Matrix	brain
31	chr8:90995600-90997400	Active TSS	Brain Hippocampus Middle	brain
32	chr8:90995800-90997200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr8:90995800-90997200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:90995800-90997200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr8:90995800-90997200	Active TSS	Primary T cells fromperipheralblood	blood
36	chr8:90995800-90997200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr8:90995800-90997200	Active TSS	Fetal Brain Male	brain
38	chr8:90996000-90997200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:90996000-90997200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:90996000-90997200	Active TSS	Primary B cells from cord blood	blood
41	chr8:90996000-90997400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr8:90996000-90997400	Active TSS	Brain Angular Gyrus	brain
43	chr8:90996000-90997400	Active TSS	Spleen	Spleen
44	chr8:90996200-90997200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr8:90996200-90997400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:90996800-90997200	Enhancers	Fetal Heart	heart
47	chr8:90996800-90997600	Enhancers	Fetal Lung	lung
48	chr8:90997000-90997200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr8:90997000-90997200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:90997000-90997200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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