Variant report

Variant	rs5998144
Chromosome Location	chr22:32248244-32248245
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	chr22:32248220-32248414	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
DEPDC5	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1013703	1.00[MEX][hapmap]
rs1076674	0.84[MEX][hapmap]
rs11089530	0.82[AMR][1000 genomes]
rs11089531	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11703040	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11703079	0.84[MEX][hapmap]
rs11703104	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11703232	0.95[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11703810	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11704129	0.81[AMR][1000 genomes]
rs11705235	0.84[MEX][hapmap]
rs11705329	0.92[MEX][hapmap]
rs11912760	1.00[CHB][hapmap]
rs12159545	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12159673	0.89[YRI][hapmap]
rs131237	0.84[MEX][hapmap]
rs131243	0.92[MEX][hapmap]
rs131254	0.92[MEX][hapmap]
rs140079	0.84[MEX][hapmap]
rs16989374	0.84[MEX][hapmap]
rs16989529	0.95[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16989540	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16989600	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989601	0.84[MEX][hapmap]
rs16989711	1.00[CHB][hapmap]
rs2051583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804088	0.84[MEX][hapmap]
rs5994435	0.92[AFR][1000 genomes]
rs5994436	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5998098	0.84[MEX][hapmap]
rs5998114	0.92[MEX][hapmap]
rs5998115	0.84[MEX][hapmap]
rs5998134	0.85[MEX][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs5998135	0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs5998150	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998155	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs62238934	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7289702	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7291742	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73884225	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32172200-32254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:32188800-32259600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:32192400-32251000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32192400-32266600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:32193000-32250600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr22:32193200-32250600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:32197200-32251000	Strong transcription	Primary B cells from cord blood	blood
8	chr22:32205200-32257600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr22:32209000-32254600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:32210600-32251000	Strong transcription	Fetal Stomach	stomach
11	chr22:32221400-32254600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:32226200-32263200	Weak transcription	Stomach Mucosa	stomach
13	chr22:32227000-32254200	Strong transcription	Fetal Intestine Small	intestine
14	chr22:32227600-32254200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr22:32229600-32254600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr22:32229800-32250400	Strong transcription	Thymus	Thymus
17	chr22:32229800-32251000	Strong transcription	Fetal Muscle Leg	muscle
18	chr22:32229800-32253000	Strong transcription	Fetal Intestine Large	intestine
19	chr22:32230000-32248800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:32230600-32250800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:32231000-32250400	Strong transcription	Adipose Nuclei	Adipose
22	chr22:32231400-32251000	Strong transcription	Spleen	Spleen
23	chr22:32231400-32260400	Strong transcription	Liver	Liver
24	chr22:32236000-32255000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:32236400-32250400	Strong transcription	Esophagus	oesophagus
26	chr22:32236400-32250800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:32238000-32250800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr22:32238000-32258000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr22:32238600-32250800	Strong transcription	Dnd41	blood
30	chr22:32241400-32263600	Weak transcription	HSMMtube	muscle
31	chr22:32242000-32253600	Weak transcription	Fetal Kidney	kidney
32	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:32242800-32266400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr22:32243000-32248800	Weak transcription	NH-A	brain
35	chr22:32243000-32248800	Weak transcription	NHDF-Ad	bronchial
36	chr22:32243000-32252800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:32243000-32263000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr22:32243200-32248800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:32243200-32248800	Weak transcription	Fetal Brain Male	brain
40	chr22:32243200-32294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:32243600-32250600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:32243600-32266200	Weak transcription	A549	lung
43	chr22:32244000-32257400	Weak transcription	HMEC	breast
44	chr22:32244400-32248800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr22:32244400-32253400	Weak transcription	Brain Substantia Nigra	brain
46	chr22:32244400-32266200	Weak transcription	HUVEC	blood vessel
47	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr22:32244600-32249800	Weak transcription	Pancreas	Pancrea
49	chr22:32244600-32252800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:32244600-32253000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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