Variant report

Variant	rs3198089
Chromosome Location	chr2:85825337-85825338
allele	C/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	POLR2A	chr2:85825238-85825439	K562	blood:	n/a	n/a
2	HNF4A	chr2:85825209-85825609	HepG2	liver:	n/a	chr2:85825416-85825428 chr2:85825415-85825430 chr2:85825415-85825428 chr2:85825415-85825428 chr2:85825414-85825429 chr2:85825416-85825429 chr2:85825416-85825428 chr2:85825415-85825428
3	POLR2A	chr2:85825162-85830624	HepG2	liver:	n/a	n/a
4	HNF4A	chr2:85825251-85825644	HepG2	liver:	n/a	chr2:85825416-85825428 chr2:85825415-85825430 chr2:85825415-85825428 chr2:85825415-85825428 chr2:85825414-85825429 chr2:85825416-85825429 chr2:85825416-85825428 chr2:85825415-85825428
5	ARID3A	chr2:85825290-85825570	HepG2	liver:	n/a	n/a
6	MYBL2	chr2:85825142-85825682	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:85825335-85825644	HepG2	liver:	n/a	n/a
8	HEY1	chr2:85825187-85827776	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:85821369-85825652	HepG2	liver:	n/a	n/a
10	HNF4G	chr2:85825170-85825705	HepG2	liver:	n/a	chr2:85825416-85825428 chr2:85825415-85825430 chr2:85825413-85825428 chr2:85825415-85825428 chr2:85825415-85825428 chr2:85825416-85825429 chr2:85825416-85825428 chr2:85825415-85825428
11	MYBL2	chr2:85825086-85825759	HepG2	liver:	n/a	n/a
12	EP300	chr2:85825221-85825594	HepG2	liver:	n/a	n/a
13	HDAC2	chr2:85825223-85825605	HepG2	liver:	n/a	n/a
14	NFIC	chr2:85825276-85825643	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:85825190-85825677	HepG2	liver:	n/a	n/a
16	NFIC	chr2:85825186-85825683	HepG2	liver:	n/a	n/a
17	HNF4G	chr2:85825190-85825628	HepG2	liver:	n/a	chr2:85825416-85825428 chr2:85825415-85825430 chr2:85825413-85825428 chr2:85825415-85825428 chr2:85825415-85825428 chr2:85825416-85825429 chr2:85825416-85825428 chr2:85825415-85825428
18	POLR2A	chr2:85825324-85830119	K562	blood:	n/a	n/a
19	EP300	chr2:85825183-85825686	HepG2	liver:	n/a	n/a
20	SP1	chr2:85825149-85825643	HepG2	liver:	n/a	chr2:85825388-85825402
21	TEAD4	chr2:85825179-85825690	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:85821285-85828013	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:85802926..85807956-chr2:85820760..85828546,8	K562	blood:
2	chr2:85764595..85768669-chr2:85824476..85831716,9	MCF-7	breast:
3	chr2:85785429..85790468-chr2:85820934..85826927,9	MCF-7	breast:
4	chr2:85764454..85770994-chr2:85819148..85831427,14	K562	blood:
5	chr2:85764018..85768553-chr2:85822883..85829718,12	MCF-7	breast:
6	chr2:85765237..85769549-chr2:85821409..85826975,10	K562	blood:

Variant related genes	Relation type
USP39	TF binding region
ENSG00000118640	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000115486	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10182351	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10190428	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10191726	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1124836	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13383605	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13414982	1.00[CEU][hapmap]
rs13418207	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs14242	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1562322	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1992151	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2118176	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2232745	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2232747	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2232750	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304564	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3024831	1.00[CEU][hapmap]
rs3755009	0.90[ASN][1000 genomes]
rs3755010	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3755011	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3821020	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3827550	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6643	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6743051	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85823200-85829200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:85823600-85829000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:85823800-85826000	Transcr. at gene 5' and 3'	HepG2	liver
4	chr2:85823800-85828800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:85824000-85825600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:85824000-85826200	Genic enhancers	Fetal Intestine Large	intestine
7	chr2:85824000-85826200	Genic enhancers	Fetal Thymus	thymus
8	chr2:85824000-85826600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:85824000-85826800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:85824000-85826800	Strong transcription	Fetal Lung	lung
11	chr2:85824000-85826800	Strong transcription	Left Ventricle	heart
12	chr2:85824000-85827000	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr2:85824000-85827000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:85824000-85827600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:85824000-85827600	Strong transcription	Aorta	Aorta
16	chr2:85824000-85828200	Genic enhancers	Liver	Liver
17	chr2:85824000-85828400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:85824000-85828600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:85824000-85828600	Genic enhancers	Fetal Intestine Small	intestine
20	chr2:85824000-85828800	Weak transcription	Psoas Muscle	Psoas
21	chr2:85824200-85825600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:85824200-85826400	Strong transcription	A549	lung
23	chr2:85824200-85826600	Strong transcription	NHEK	skin
24	chr2:85824200-85826800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:85824200-85826800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:85824200-85827000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:85824200-85827200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:85824200-85827200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:85824200-85827200	Strong transcription	Primary T cells from cord blood	blood
30	chr2:85824200-85827200	Strong transcription	Brain Anterior Caudate	brain
31	chr2:85824200-85827400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:85824200-85828200	Strong transcription	Fetal Brain Female	brain
33	chr2:85824200-85828400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:85824200-85828400	Weak transcription	Right Atrium	heart
35	chr2:85824200-85828600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:85824200-85828600	Genic enhancers	Pancreas	Pancrea
37	chr2:85824400-85826000	Strong transcription	Colonic Mucosa	Colon
38	chr2:85824400-85826400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:85824400-85826400	Strong transcription	Esophagus	oesophagus
40	chr2:85824400-85826600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:85824400-85826600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:85824400-85826800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:85824400-85827000	Strong transcription	Osteobl	bone
44	chr2:85824400-85827200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:85824400-85827200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:85824400-85827200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr2:85824400-85827200	Strong transcription	Brain Hippocampus Middle	brain
48	chr2:85824400-85827200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:85824400-85827200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr2:85824400-85827400	Strong transcription	Primary monocytes fromperipheralblood	blood

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