Variant report

Variant	rs311588
Chromosome Location	chr2:86290186-86290187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86267588..86269329-chr2:86289160..86291639,2	K562	blood:

Variant related genes	Relation type
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10173155	0.94[ASN][1000 genomes]
rs10208184	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1036553	0.92[ASN][1000 genomes]
rs1050301	0.82[ASN][1000 genomes]
rs11127016	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11685551	0.81[ASN][1000 genomes]
rs17584697	0.83[ASN][1000 genomes]
rs2059352	0.86[ASN][1000 genomes]
rs2081322	0.81[ASN][1000 genomes]
rs2083168	0.85[ASN][1000 genomes]
rs2099616	0.85[ASN][1000 genomes]
rs2099617	0.85[ASN][1000 genomes]
rs2194486	0.84[ASN][1000 genomes]
rs2276626	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2303338	0.81[ASN][1000 genomes]
rs2367200	0.81[ASN][1000 genomes]
rs2886885	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs311564	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs311576	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311578	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311579	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731818	0.84[ASN][1000 genomes]
rs3764949	0.84[ASN][1000 genomes]
rs3764950	0.84[ASN][1000 genomes]
rs4344936	0.84[ASN][1000 genomes]
rs4832233	0.93[ASN][1000 genomes]
rs4832240	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62147717	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6547653	0.85[ASN][1000 genomes]
rs6547654	0.85[ASN][1000 genomes]
rs6547655	0.88[ASN][1000 genomes]
rs6731358	0.81[ASN][1000 genomes]
rs717144	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72847885	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7571529	0.83[ASN][1000 genomes]
rs7586985	0.81[ASN][1000 genomes]
rs7595420	0.85[ASN][1000 genomes]
rs7599326	0.83[ASN][1000 genomes]
rs7606897	0.82[ASN][1000 genomes]
rs7607138	0.85[ASN][1000 genomes]
rs879649	0.93[ASN][1000 genomes]
rs893442	0.85[ASN][1000 genomes]
rs934829	0.85[ASN][1000 genomes]
rs934831	0.85[ASN][1000 genomes]
rs965636	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs311588	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs311588	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:86266400-86295800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:86267200-86290800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:86268800-86291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:86268800-86295000	Strong transcription	Dnd41	blood
9	chr2:86276400-86291000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:86276800-86291200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:86280200-86293000	Weak transcription	Psoas Muscle	Psoas
12	chr2:86280800-86291200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:86281200-86290800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:86281400-86290800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:86281400-86290800	Weak transcription	Colonic Mucosa	Colon
16	chr2:86281400-86291400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:86281400-86292400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:86281600-86290800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:86281600-86291200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:86282000-86290800	Weak transcription	Brain Angular Gyrus	brain
21	chr2:86282400-86291000	Weak transcription	Brain Germinal Matrix	brain
22	chr2:86282600-86290800	Weak transcription	Right Ventricle	heart
23	chr2:86282600-86291000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:86282600-86299200	Weak transcription	Small Intestine	intestine
25	chr2:86282800-86290200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:86282800-86290600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:86282800-86291200	Weak transcription	Lung	lung
28	chr2:86282800-86291800	Weak transcription	Esophagus	oesophagus
29	chr2:86282800-86291800	Weak transcription	Gastric	stomach
30	chr2:86282800-86292000	Weak transcription	Spleen	Spleen
31	chr2:86282800-86295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:86283000-86290400	Weak transcription	Brain Substantia Nigra	brain
33	chr2:86283000-86290800	Strong transcription	GM12878-XiMat	blood
34	chr2:86283800-86291800	Weak transcription	Fetal Intestine Small	intestine
35	chr2:86284000-86292000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:86284200-86291400	Weak transcription	Thymus	Thymus
37	chr2:86285800-86294600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:86285800-86299400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:86286000-86290800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:86286000-86302200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:86286000-86331000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:86286000-86331200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:86286200-86292600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:86286200-86292600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:86286200-86292600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:86286200-86294200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:86286200-86298400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:86286200-86298600	Strong transcription	Fetal Lung	lung
49	chr2:86286200-86310400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:86286200-86311200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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