Variant report

Variant	rs4733965
Chromosome Location	chr8:38857808-38857809
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	REST	chr8:38855875-38858248	A549	lung:	n/a	n/a
2	MAX	chr8:38855778-38858136	A549	lung:	n/a	n/a
3	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
4	GATA2	chr8:38856987-38859131	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr8:38855360-38857879	U87	brain:	n/a	n/a
6	SP1	chr8:38856974-38858258	A549	lung:	n/a	n/a
7	JUND	chr8:38856242-38857808	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
8	POLR2A	chr8:38857757-38859185	HUVEC	blood vessel:	n/a	n/a
9	JUND	chr8:38856048-38857845	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
10	FOSL1	chr8:38856232-38858172	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38856994-38857003 chr8:38857022-38857031 chr8:38857969-38857977
11	POLR2A	chr8:38857693-38858151	A549	lung:	n/a	n/a
12	SIN3AK20	chr8:38856402-38858022	HCT-116	colon:	n/a	n/a
13	EGR1	chr8:38857641-38857881	K562	blood:	n/a	n/a
14	SP1	chr8:38856339-38859288	A549	lung:	n/a	n/a
15	CEBPB	chr8:38856258-38858383	HCT-116	colon:	n/a	chr8:38857269-38857281
16	GATA3	chr8:38856199-38857930	A549	lung:	n/a	n/a
17	ZNF384	chr8:38857399-38858082	K562	blood:	n/a	n/a
18	SP1	chr8:38856225-38858131	HCT-116	colon:	n/a	n/a
19	POLR2A	chr8:38854896-38859164	HUVEC	blood vessel:	n/a	n/a
20	FOXM1	chr8:38856326-38857829	ECC-1	luminal epithelium:	n/a	n/a
21	NR2F2	chr8:38857596-38857906	K562	blood:	n/a	n/a
22	EP300	chr8:38856340-38857877	ECC-1	luminal epithelium:	n/a	chr8:38856880-38856887 chr8:38857418-38857432 chr8:38856710-38856719
23	KAP1	chr8:38857151-38858260	HEK293	kidney:	n/a	n/a
24	NFIC	chr8:38856316-38857843	SK-N-SH	brain:	n/a	n/a
25	NFIC	chr8:38856720-38857858	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr8:38855026-38859169	HUVEC	blood vessel:	n/a	n/a
27	TCF12	chr8:38853459-38859347	A549	lung:	n/a	chr8:38853682-38853690 chr8:38854813-38854820
28	JUND	chr8:38857529-38857905	A549	lung:	n/a	n/a
29	POLR2A	chr8:38857697-38857821	A549	lung:	n/a	n/a
30	SP1	chr8:38856219-38858178	HCT-116	colon:	n/a	n/a
31	SETDB1	chr8:38857774-38858366	U2OS	brain:	n/a	n/a
32	POLR2A	chr8:38853548-38857906	U87	brain:	n/a	n/a
33	MAX	chr8:38857264-38858073	A549	lung:	n/a	n/a
34	TCF12	chr8:38856390-38857827	SK-N-SH	brain:	n/a	n/a
35	EP300	chr8:38856304-38858248	A549	lung:	n/a	chr8:38856880-38856887 chr8:38857418-38857432 chr8:38856710-38856719
36	EGR1	chr8:38857614-38857887	K562	blood:	n/a	n/a
37	GATA3	chr8:38856236-38857809	SK-N-SH	brain:	n/a	n/a
38	FOSL2	chr8:38856187-38858261	A549	lung:	n/a	chr8:38857182-38857194 chr8:38857020-38857031 chr8:38856994-38857003 chr8:38857022-38857031 chr8:38857969-38857977
39	TEAD4	chr8:38856663-38857810	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:38856826..38859687-chr8:38879245..38881053,2	MCF-7	breast:
2	chr8:38849585..38851368-chr8:38856687..38858833,2	MCF-7	breast:
3	chr8:38853560..38856920-chr8:38856982..38859048,5	K562	blood:
4	chr8:38839827..38841978-chr8:38857481..38860325,2	K562	blood:
5	chr8:38849173..38851753-chr8:38855572..38858070,2	MCF-7	breast:

Variant related genes	Relation type
TM2D2	TF binding region
ENSG00000168615	Chromatin interaction
ENSG00000169490	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10095517	0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10100675	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10102161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104287	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958533	0.90[JPT][hapmap];0.82[TSI][hapmap]
rs10958534	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10958814	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11986341	0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs13250555	0.89[JPT][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17846551	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34017677	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35245993	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35355873	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4313121	0.90[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4367507	0.93[CEU][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576396	0.93[CEU][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633028	1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4733895	0.81[ASW][hapmap];0.86[CEU][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733896	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733898	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733902	0.93[CEU][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733903	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733960	0.86[CEU][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733963	0.81[ASW][hapmap];0.86[CEU][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733967	0.92[CEU][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733968	0.93[CEU][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733969	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474521	0.90[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6474522	0.81[AMR][1000 genomes]
rs6474523	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6474524	0.90[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6474526	0.82[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6474527	0.90[JPT][hapmap];0.95[LWK][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap];0.92[ASN][1000 genomes]
rs6474528	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6474529	0.90[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6989615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990299	0.89[GIH][hapmap];0.90[JPT][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6995969	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap]
rs7003738	1.00[ASW][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7013359	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7829041	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833611	0.91[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836006	0.89[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840293	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840746	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844848	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7846203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298649	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643905	1.00[ASW][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38855200-38864600	Weak transcription	Spleen	Spleen
2	chr8:38855800-38858200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:38855800-38881600	Weak transcription	Fetal Kidney	kidney
4	chr8:38856200-38858000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:38856600-38860400	Weak transcription	Gastric	stomach
6	chr8:38856600-38861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:38856600-38889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:38856800-38858000	Enhancers	Fetal Stomach	stomach
9	chr8:38856800-38858000	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:38856800-38858200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:38856800-38858200	Enhancers	Adipose Nuclei	Adipose
12	chr8:38856800-38858200	Enhancers	Fetal Muscle Leg	muscle
13	chr8:38856800-38858600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:38856800-38859000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:38856800-38859400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:38856800-38859600	Weak transcription	Primary B cells from cord blood	blood
17	chr8:38856800-38860200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:38856800-38862000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:38856800-38862200	Weak transcription	Aorta	Aorta
20	chr8:38856800-38862400	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:38856800-38865600	Weak transcription	Dnd41	blood
22	chr8:38856800-38866600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:38856800-38866600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:38856800-38869400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:38856800-38869400	Weak transcription	Liver	Liver
26	chr8:38856800-38874400	Weak transcription	Brain Anterior Caudate	brain
27	chr8:38856800-38889600	Weak transcription	Colonic Mucosa	Colon
28	chr8:38857000-38858400	Flanking Active TSS	Osteobl	bone
29	chr8:38857000-38858800	Enhancers	Fetal Heart	heart
30	chr8:38857000-38859000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:38857200-38858000	Enhancers	Fetal Brain Male	brain
32	chr8:38857200-38858000	Flanking Active TSS	Hela-S3	cervix
33	chr8:38857200-38858400	Enhancers	Placenta	Placenta
34	chr8:38857200-38858800	Enhancers	Small Intestine	intestine
35	chr8:38857200-38859000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr8:38857200-38859200	Enhancers	Colon Smooth Muscle	Colon
37	chr8:38857200-38859200	Enhancers	Stomach Mucosa	stomach
38	chr8:38857200-38859800	Flanking Active TSS	HUVEC	blood vessel
39	chr8:38857200-38881400	Weak transcription	Fetal Brain Female	brain
40	chr8:38857400-38858000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:38857400-38858000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:38857400-38858000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:38857400-38858000	Enhancers	Fetal Muscle Trunk	muscle
44	chr8:38857400-38858000	Flanking Active TSS	NHEK	skin
45	chr8:38857400-38858200	Enhancers	Left Ventricle	heart
46	chr8:38857400-38858200	Enhancers	Psoas Muscle	Psoas
47	chr8:38857400-38858600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:38857400-38858600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:38857400-38858600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:38857400-38859200	Enhancers	Duodenum Smooth Muscle	Duodenum

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