Variant report

Variant	rs4648175
Chromosome Location	chr2:37368567-37368568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37363462..37365570-chr2:37367362..37369092,2	MCF-7	breast:
2	chr2:37311125..37314057-chr2:37368487..37371487,3	MCF-7	breast:
3	chr2:37368133..37370400-chr2:37382562..37384614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152133	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000008869	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10177315	1.00[ASN][1000 genomes]
rs10194972	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11892108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892180	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894496	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896614	1.00[CHB][hapmap]
rs13388882	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414561	1.00[CHB][hapmap]
rs13425846	1.00[ASN][1000 genomes]
rs13429945	1.00[CHB][hapmap]
rs17410072	1.00[CHB][hapmap]
rs2307472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307483	1.00[CHB][hapmap]
rs2372443	1.00[ASN][1000 genomes]
rs2373114	1.00[CHB][hapmap]
rs2373188	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856498	1.00[ASN][1000 genomes]
rs4233920	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648158	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4648166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648202	1.00[CHB][hapmap]
rs4648212	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648216	1.00[ASN][1000 genomes]
rs4648218	1.00[ASN][1000 genomes]
rs4648219	1.00[ASN][1000 genomes]
rs4648234	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648237	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55679447	1.00[ASN][1000 genomes]
rs55939105	1.00[ASN][1000 genomes]
rs62621388	1.00[ASN][1000 genomes]
rs6544054	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6544055	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6720519	1.00[ASN][1000 genomes]
rs6726403	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6726768	1.00[CHB][hapmap]
rs6726921	1.00[CHB][hapmap]
rs6733861	1.00[CHB][hapmap]
rs6734153	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6740307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749793	1.00[CHB][hapmap]
rs6754376	1.00[CHB][hapmap]
rs7556959	1.00[CHB][hapmap]
rs7559558	1.00[CHB][hapmap]
rs7568925	1.00[ASN][1000 genomes]
rs7590377	1.00[ASN][1000 genomes]
rs759460	1.00[CHB][hapmap]
rs759668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759669	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309005	1.00[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4648175	CCDC75	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:37332600-37375200	Strong transcription	Liver	Liver
4	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:37335600-37370400	Weak transcription	Fetal Heart	heart
6	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
7	chr2:37339800-37376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:37341600-37369000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:37342400-37376400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:37342400-37376400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:37342400-37376600	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:37346400-37376200	Strong transcription	Fetal Intestine Large	intestine
13	chr2:37346600-37373200	Weak transcription	Stomach Mucosa	stomach
14	chr2:37347600-37376400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:37347800-37376400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:37347800-37376400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:37348400-37376000	Strong transcription	Adipose Nuclei	Adipose
18	chr2:37348400-37377000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:37348600-37371000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:37348600-37376200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:37348600-37376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:37348600-37377200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:37348600-37377400	Strong transcription	Dnd41	blood
24	chr2:37348800-37369600	Strong transcription	Primary T cells from cord blood	blood
25	chr2:37348800-37376200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:37348800-37376400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:37348800-37376600	Strong transcription	Fetal Thymus	thymus
28	chr2:37348800-37376800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:37349000-37368600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:37349000-37375400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:37349000-37376200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:37349000-37376200	Strong transcription	Fetal Brain Female	brain
33	chr2:37349200-37368600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:37349200-37369400	Strong transcription	A549	lung
35	chr2:37351800-37376000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:37352200-37368800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:37352200-37372200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:37352600-37368800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:37352600-37369000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:37353000-37377200	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:37354800-37371400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:37355000-37383200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:37355200-37374800	Strong transcription	GM12878-XiMat	blood
44	chr2:37355200-37376000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:37355200-37376800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:37355600-37371000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:37355800-37369400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:37355800-37370800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:37356000-37368800	Strong transcription	Primary B cells from cord blood	blood
50	chr2:37356400-37369000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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