Variant report

Variant	rs1318499
Chromosome Location	chr7:2961374-2961375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:2961215..2963886-chr7:2968624..2971671,3	K562	blood:
2	chr7:2961215..2963886-chr7:2968624..2970785,2	K562	blood:

Variant related genes	Relation type
ENSG00000198286	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13234948	0.87[EUR][1000 genomes]
rs2527509	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3735124	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3735125	0.88[ASN][1000 genomes]
rs4722234	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs958331	0.92[CEU][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1025727	chr7:2938301-3064008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv984495	chr7:2943735-2979225	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv528122	chr7:2955097-2976767	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1318499	PMS2	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2926800-2968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:2933400-2987200	Weak transcription	Gastric	stomach
3	chr7:2943800-2988200	Strong transcription	Primary T cells from cord blood	blood
4	chr7:2944000-2988200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:2944200-2981800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr7:2944200-2987400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:2944400-2986800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:2944400-2987400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:2944400-2988400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:2944800-2964200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:2944800-2987400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:2944800-2987600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:2944800-2987600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:2945400-2961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:2945400-2961800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:2945400-2987400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:2947600-2964200	Strong transcription	Thymus	Thymus
18	chr7:2948400-2961600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:2948400-2980600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr7:2949000-2966400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:2949800-2977400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:2951000-2988400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:2953400-2962800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:2954000-2984800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:2955600-2961800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:2957000-2988000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:2957800-2964000	Strong transcription	Fetal Thymus	thymus
28	chr7:2958000-2962200	Strong transcription	GM12878-XiMat	blood
29	chr7:2958200-2962600	Strong transcription	Primary B cells from cord blood	blood
30	chr7:2958400-2963200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:2958400-2964000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:2959200-2966200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:2959400-2961800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:2959400-2961800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:2959400-2962200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:2959800-2961400	Weak transcription	Spleen	Spleen
37	chr7:2959800-2963000	Weak transcription	HUVEC	blood vessel
38	chr7:2960000-2961600	Enhancers	Fetal Heart	heart
39	chr7:2960000-2961800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:2960000-2974000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:2960200-2978600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:2960600-2961400	Enhancers	HMEC	breast
43	chr7:2960600-2961600	Enhancers	Ovary	ovary
44	chr7:2960600-2961600	Enhancers	NHEK	skin
45	chr7:2960600-2961800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:2960600-2961800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr7:2960600-2961800	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr7:2960600-2962000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:2960600-2962200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:2960800-2961400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain

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